Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.[81511582G>A;81511584T>A;81511606G>C] , CM000679.2:g.[81511582G>A;81511584T>A;81511606G>C]	GRCh38
NC_000017.10:g.[79478608G>A;79478610T>A;79478632G>C] , CM000679.1:g.[79478608G>A;79478610T>A;79478632G>C]	GRCh37
NC_000017.9:g.[77093203G>A;77093205T>A;77093227G>C]	NCBI36
NG_011433.1:g.[6196C>G;6218A>T;6220C>T]

Transcript Alleles

HGVS	Amino-acid Change
NM_001614.5:c.[384C>G;406A>T;408C>T] MANE Select	NP_001605.1:p.[Asn128Lys;Ile136Phe;Ile136=]
ENST00000573283.7:c.[384C>G;406A>T;408C>T] MANE Select	ENSP00000458435.1:p.[Asn128Lys;Ile136Phe;Ile136=]
NM_001199954.1:c.[384C>G;406A>T;408C>T]	NP_001186883.1:p.[Asn128Lys;Ile136Phe;Ile136=]
NM_001199954.2:c.[384C>G;406A>T;408C>T]	NP_001186883.1:p.[Asn128Lys;Ile136Phe;Ile136=]
NM_001199954.3:c.[384C>G;406A>T;408C>T]	NP_001186883.1:p.[Asn128Lys;Ile136Phe;Ile136=]
NM_001614.3:c.[384C>G;406A>T;408C>T]	NP_001605.1:p.[Asn128Lys;Ile136Tyr]
NM_001614.4:c.[384C>G;406A>T;408C>T]	NP_001605.1:p.[Asn128Lys;Ile136Phe;Ile136=]
NR_037688.1:n.[523C>G;545A>T;547C>T]
NR_037688.2:n.[456C>G;478A>T;480C>T]
NR_037688.3:n.[456C>G;478A>T;480C>T]
ENST00000331925.6:c.[384C>G;406A>T;408C>T]	ENSP00000331514.2:p.[Asn128Lys;Ile136Phe;Ile136=]
ENST00000570382.1:c.[340-28C>G;340-6A>T;340-4C>T]	ENSP00000466346.1:n.[340-28C>G;340-6A>T;340-4C>T]
ENST00000570382.2:c.[384C>G;406A>T;408C>T]	ENSP00000466346.2:p.[Asn128Lys;Ile136Phe;Ile136=]
ENST00000571691.5:c.[357C>G;379A>T;381C>T]	ENSP00000461407.1:p.[Asn119Lys;Ile127Phe;Ile127=]
ENST00000571691.6:c.[340-28C>G;340-6A>T;340-4C>T]	ENSP00000461407.2:n.[340-28C>G;340-6A>T;340-4C>T]
ENST00000571721.5:c.[384C>G;406A>T;408C>T]	ENSP00000460660.1:p.[Asn128Lys;Ile136Phe;Ile136=]
ENST00000571721.6:c.[384C>G;406A>T;408C>T]	ENSP00000460660.2:p.[Asn128Lys;Ile136Phe;Ile136=]
ENST00000572105.6:c.[425C>G;447A>T;449C>T]	ENSP00000462823.1:p.[Thr142Arg;Pro149=;Ser150Phe]
ENST00000572105.7:c.[425C>G;447A>T;449C>T]	ENSP00000462823.1:p.[Thr142Arg;Pro149=;Ser150Phe]
ENST00000573283.5:c.[384C>G;406A>T;408C>T]	ENSP00000458435.1:p.[Asn128Lys;Ile136Cys]
ENST00000574671.5:n.[243C>G;265A>T;267C>T]
ENST00000574671.6:n.[784C>G;806A>T;808C>T]
ENST00000575087.5:c.[384C>G;406A>T;408C>T]	ENSP00000459124.1:p.[Asn128Lys;Ile136Phe;Ile136=]
ENST00000575659.5:c.[384C>G;406A>T;408C>T]	ENSP00000459119.1:p.[Asn128Lys;Ile136Tyr]
ENST00000575659.6:c.[384C>G;406A>T;408C>T]	ENSP00000459119.2:p.[Asn128Lys;Ile136Tyr]
ENST00000575842.5:c.[384C>G;406A>T;408C>T]	ENSP00000458162.1:p.[Asn128Lys;Ile136Ser]
ENST00000575994.5:c.[384C>G;406A>T;408C>T]	ENSP00000460464.1:p.[Asn128Lys;Ile136Phe;Ile136=]
ENST00000575994.6:c.[384C>G;406A>T;408C>T]	ENSP00000460464.2:p.[Asn128Lys;Ile136Phe;Ile136=]
ENST00000576209.5:n.[269C>G;291A>T;293C>T]
ENST00000576214.2:n.[582C>G;604A>T;606C>T]
ENST00000576214.3:n.[685C>G;707A>T;709C>T]
ENST00000576544.5:c.[384C>G;406A>T;408C>T]	ENSP00000461672.1:p.[Asn128Lys;Ile136Tyr]
ENST00000576544.6:c.[384C>G;406A>T;408C>T]	ENSP00000461672.1:p.[Asn128Lys;Ile136Tyr]
ENST00000576917.5:n.[437C>G;459A>T;461C>T]
ENST00000615544.4:c.[384C>G;406A>T;408C>T]	ENSP00000477968.1:p.[Asn128Lys;Ile136Tyr]
ENST00000615544.5:c.[384C>G;406A>T;408C>T]	ENSP00000477968.1:p.[Asn128Lys;Ile136Phe;Ile136=]
ENST00000644774.2:c.[357C>G;379A>T;381C>T]	ENSP00000493648.2:p.[Asn119Lys;Ile127Phe;Ile127=]
ENST00000679410.1:n.[508C>G;530A>T;532C>T]
ENST00000679480.1:c.[384C>G;406A>T;408C>T]	ENSP00000506201.1:p.[Asn128Lys;Ile136Phe;Ile136=]
ENST00000679535.1:n.[685C>G;707A>T;709C>T]
ENST00000679778.1:c.[384C>G;406A>T;408C>T]	ENSP00000505235.1:p.[Asn128Lys;Ile136Cys]
ENST00000680227.1:c.[384C>G;406A>T;408C>T]	ENSP00000506253.1:p.[Asn128Lys;Ile136Phe;Ile136=]
ENST00000680727.1:c.[384C>G;406A>T;408C>T]	ENSP00000505193.1:p.[Asn128Lys;Ile136Phe;Ile136=]
ENST00000681052.1:c.[384C>G;406A>T;408C>T]	ENSP00000505060.1:p.[Asn128Lys;Ile136Phe;Ile136=]
ENST00000681092.1:c.[188C>G;210A>T;*212C>T]	ENSP00000506720.1:n.[188C>G;210A>T;*212C>T]
ENST00000681842.1:c.[384C>G;406A>T;408C>T]	ENSP00000506126.1:p.[Asn128Lys;Ile136Phe;Ile136=]