Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.171407216T= , CM000667.2:g.171407216T=	GRCh38
NC_000005.9:g.170834220T= , CM000667.1:g.170834220T=	GRCh37
NC_000005.8:g.170766825T=	NCBI36
NG_016018.1:g.24513T= , LRG_458:g.24513T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296930.10:c.772-484T= MANE Select	ENSP00000296930.5:n.772-484T=
ENST00000518587.2:n.966-484T=
ENST00000521260.2:n.1150-484T=
ENST00000521672.6:c.580-484T=	ENSP00000429485.2:n.580-484T=
ENST00000676504.1:n.1518-484T=
ENST00000676589.1:c.859-484T=	ENSP00000503283.1:n.859-484T=
ENST00000676613.1:c.*1035T=	ENSP00000503767.1:n.*1035T=
ENST00000676625.1:n.2705T=
ENST00000677297.1:c.259-484T=	ENSP00000504016.1:n.259-484T=
ENST00000677325.1:c.580-484T=	ENSP00000503781.1:n.580-484T=
ENST00000677357.1:c.804+55T=	ENSP00000504740.1:n.804+55T=
ENST00000677467.1:n.1713T=
ENST00000677600.1:n.1606T=
ENST00000677672.1:n.1711T=
ENST00000677682.1:n.1618T=
ENST00000677741.1:n.2038-484T=
ENST00000677904.1:n.1048-484T=
ENST00000677907.1:c.493-484T=	ENSP00000504308.1:n.493-484T=
ENST00000678186.1:n.1758T=
ENST00000678267.1:c.*1389T=	ENSP00000504107.1:n.*1389T=
ENST00000678280.1:c.*756+55T=	ENSP00000503235.1:n.*756+55T=
ENST00000678774.1:c.*248-484T=	ENSP00000503150.1:n.*248-484T=
ENST00000679006.1:n.893-484T=
ENST00000679190.1:c.247-503T=	ENSP00000503408.1:n.247-503T=
ENST00000296930.9:c.772-484T=	ENSP00000296930.5:n.772-484T=
ENST00000351986.10:c.685-484T=	ENSP00000341168.6:n.685-484T=
ENST00000517671.5:c.772-484T=	ENSP00000428755.1:n.772-484T=
NM_002520.6:c.772-484T= , LRG_458t1:c.772-484T=	NP_002511.1:n.772-484T=
NM_199185.3:c.685-484T=	NP_954654.1:n.685-484T=
XM_011534564.1:c.580-484T=	XP_011532866.1:n.580-484T=
NM_001355006.1:c.772-484T=	NP_001341935.1:n.772-484T=
NM_001355007.1:c.580-484T=	NP_001341936.1:n.580-484T=
NM_001355010.1:c.391-484T=	NP_001341939.1:n.391-484T=
NR_149149.1:n.889-484T=
NM_001355006.2:c.772-484T=	NP_001341935.1:n.772-484T=
NM_001355007.2:c.580-484T=	NP_001341936.1:n.580-484T=
NM_001355010.2:c.391-484T=	NP_001341939.1:n.391-484T=
NM_002520.7:c.772-484T= MANE Select	NP_002511.1:n.772-484T=
NM_199185.4:c.685-484T=	NP_954654.1:n.685-484T=
NR_149149.2:n.744-484T=