Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.[81511546G>C;81511548T>C;81511604G>A] , CM000679.2:g.[81511546G>C;81511548T>C;81511604G>A]	GRCh38
NC_000017.10:g.[79478572G>C;79478574T>C;79478630G>A] , CM000679.1:g.[79478572G>C;79478574T>C;79478630G>A]	GRCh37
NC_000017.9:g.[77093167G>C;77093169T>C;77093225G>A]	NCBI36
NG_011433.1:g.[6198C>T;6254A>G;6256C>G]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.[386C>T;442A>G;444C>G]	ENSP00000466346.2:p.[Thr129Ile;Thr148Ala;Thr148=]
ENST00000571691.6:c.[340-26C>T;370A>G;372C>G]	ENSP00000461407.2:p.[Thr124Ala;Thr124=]
ENST00000571721.6:c.[386C>T;442A>G;444C>G]	ENSP00000460660.2:p.[Thr129Ile;Thr148Ala;Thr148=]
ENST00000572105.7:c.[427C>T;483A>G;485C>G]	ENSP00000462823.1:p.[Pro143Ser;Ala161=;Pro162Arg]
ENST00000573283.7:c.[386C>T;442A>G;444C>G] MANE Select	ENSP00000458435.1:p.[Thr129Ile;Thr148Ala;Thr148=]
ENST00000574671.6:n.[786C>T;842A>G;844C>G]
ENST00000575659.6:c.[386C>T;442A>G;444C>G]	ENSP00000459119.2:p.[Thr129Ile;Thr148Gly]
ENST00000575994.6:c.[386C>T;442A>G;444C>G]	ENSP00000460464.2:p.[Thr129Ile;Thr148Ala;Thr148=]
ENST00000576214.3:n.[687C>T;743A>G;745C>G]
ENST00000576544.6:c.[386C>T;442A>G;444C>G]	ENSP00000461672.1:p.[Thr129Ile;Thr148Gly]
ENST00000615544.5:c.[386C>T;442A>G;444C>G]	ENSP00000477968.1:p.[Thr129Ile;Thr148Ala;Thr148=]
ENST00000644774.2:c.[359C>T;415A>G;417C>G]	ENSP00000493648.2:p.[Thr120Ile;Thr139Ala;Thr139=]
ENST00000679410.1:n.[510C>T;566A>G;568C>G]
ENST00000679480.1:c.[386C>T;442A>G;444C>G]	ENSP00000506201.1:p.[Thr129Ile;Thr148Ala;Thr148=]
ENST00000679535.1:n.[687C>T;743A>G;745C>G]
ENST00000679778.1:c.[386C>T;442A>G;444C>G]	ENSP00000505235.1:p.[Thr129Ile;Thr148Gly]
ENST00000680227.1:c.[386C>T;442A>G;444C>G]	ENSP00000506253.1:p.[Thr129Ile;Thr148Ala;Thr148=]
ENST00000680727.1:c.[386C>T;442A>G;444C>G]	ENSP00000505193.1:p.[Thr129Ile;Thr148Ala;Thr148=]
ENST00000681052.1:c.[386C>T;442A>G;444C>G]	ENSP00000505060.1:p.[Thr129Ile;Thr148Ala;Thr148=]
ENST00000681092.1:c.[190C>T;246A>G;*248C>G]	ENSP00000506720.1:n.[190C>T;246A>G;*248C>G]
ENST00000681842.1:c.[386C>T;442A>G;444C>G]	ENSP00000506126.1:p.[Thr129Ile;Thr148Ala;Thr148=]
ENST00000331925.6:c.[386C>T;442A>G;444C>G]	ENSP00000331514.2:p.[Thr129Ile;Thr148Ala;Thr148=]
ENST00000570382.1:c.[340-26C>T;370A>G;372C>G]	ENSP00000466346.1:p.[Thr124Ala;Thr124=]
ENST00000571691.5:c.[359C>T;415A>G;417C>G]	ENSP00000461407.1:p.[Thr120Ile;Thr139Ala;Thr139=]
ENST00000571721.5:c.[386C>T;442A>G;444C>G]	ENSP00000460660.1:p.[Thr129Ile;Thr148Ala;Thr148=]
ENST00000572105.6:c.[427C>T;483A>G;485C>G]	ENSP00000462823.1:p.[Pro143Ser;Ala161=;Pro162Arg]
ENST00000573283.5:c.[386C>T;442A>G;444C>G]	ENSP00000458435.1:p.[Thr129Ile;Thr148Glu]
ENST00000574671.5:n.[245C>T;301A>G;303C>G]
ENST00000575087.5:c.[386C>T;442A>G;444C>G]	ENSP00000459124.1:p.[Thr129Ile;Thr148Ala;Thr148=]
ENST00000575659.5:c.[386C>T;442A>G;444C>G]	ENSP00000459119.1:p.[Thr129Ile;Thr148Gly]
ENST00000575842.5:c.[386C>T;442A>G;444C>G]	ENSP00000458162.1:p.[Thr129Ile;Thr148Gly]
ENST00000575994.5:c.[386C>T;442A>G;444C>G]	ENSP00000460464.1:p.[Thr129Ile;Thr148Ala;Thr148=]
ENST00000576209.5:n.[271C>T;327A>G;329C>G]
ENST00000576214.2:n.[584C>T;640A>G;642C>G]
ENST00000576544.5:c.[386C>T;442A>G;444C>G]	ENSP00000461672.1:p.[Thr129Ile;Thr148Gly]
ENST00000576917.5:n.[439C>T;495A>G;497C>G]
ENST00000615544.4:c.[386C>T;442A>G;444C>G]	ENSP00000477968.1:p.[Thr129Ile;Thr148Gly]
NM_001199954.1:c.[386C>T;442A>G;444C>G]	NP_001186883.1:p.[Thr129Ile;Thr148Ala;Thr148=]
NM_001614.3:c.[386C>T;442A>G;444C>G]	NP_001605.1:p.[Thr129Ile;Thr148Gly]
NR_037688.1:n.[525C>T;581A>G;583C>G]
NM_001199954.2:c.[386C>T;442A>G;444C>G]	NP_001186883.1:p.[Thr129Ile;Thr148Ala;Thr148=]
NM_001614.4:c.[386C>T;442A>G;444C>G]	NP_001605.1:p.[Thr129Ile;Thr148Ala;Thr148=]
NR_037688.2:n.[458C>T;514A>G;516C>G]
NM_001614.5:c.[386C>T;442A>G;444C>G] MANE Select	NP_001605.1:p.[Thr129Ile;Thr148Ala;Thr148=]
NR_037688.3:n.[458C>T;514A>G;516C>G]
NM_001199954.3:c.[386C>T;442A>G;444C>G]	NP_001186883.1:p.[Thr129Ile;Thr148Ala;Thr148=]