Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986500A>T , CM000663.2:g.16986500A>T	GRCh38
NC_000001.10:g.17312995A>T , CM000663.1:g.17312995A>T	GRCh37
NC_000001.9:g.17185582A>T	NCBI36
NG_009054.1:g.30429T>A
NG_029688.1:g.87T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3368T>A MANE Select	ENSP00000327214.8:p.Leu1123Gln
ENST00000326735.12:c.3368T>A	ENSP00000327214.8:p.Leu1123Gln
ENST00000341676.9:c.3104-142T>A	ENSP00000341115.5:n.3104-142T>A
ENST00000452699.5:c.3353T>A	ENSP00000413307.1:p.Leu1118Gln
ENST00000466561.1:n.1414T>A
ENST00000502418.1:c.824-142T>A	ENSP00000423065.1:n.824-142T>A
NM_001141973.2:c.3353T>A	NP_001135445.1:p.Leu1118Gln
NM_001141974.2:c.3104-142T>A	NP_001135446.1:n.3104-142T>A
NM_022089.3:c.3368T>A	NP_071372.1:p.Leu1123Gln
XM_005245809.1:c.3236-142T>A	XP_005245866.1:n.3236-142T>A
XM_005245810.1:c.3233-142T>A	XP_005245867.1:n.3233-142T>A
XM_005245811.1:c.3221-142T>A	XP_005245868.1:n.3221-142T>A
XM_005245812.1:c.3209-142T>A	XP_005245869.1:n.3209-142T>A
XM_005245813.1:c.3176-142T>A	XP_005245870.1:n.3176-142T>A
XM_005245815.1:c.3119-142T>A	XP_005245872.1:n.3119-142T>A
XM_006710512.1:c.3218-142T>A	XP_006710575.1:n.3218-142T>A
XM_006710513.1:c.3194-142T>A	XP_006710576.1:n.3194-142T>A
XM_011541128.1:c.3221-142T>A	XP_011539430.1:n.3221-142T>A
XM_011541129.1:c.3029-142T>A	XP_011539431.1:n.3029-142T>A
XM_017000844.1:c.3353T>A	XP_016856333.1:p.Leu1118Gln
XM_017000845.1:c.3350T>A	XP_016856334.1:p.Leu1117Gln
XM_017000846.1:c.3326T>A	XP_016856335.1:p.Leu1109Gln
XM_017000847.1:c.3323T>A	XP_016856336.1:p.Leu1108Gln
XM_017000848.1:c.3251T>A	XP_016856337.1:p.Leu1084Gln
XM_017000849.1:c.3236T>A	XP_016856338.1:p.Leu1079Gln
XM_017000850.1:c.3161T>A	XP_016856339.1:p.Leu1054Gln
NM_022089.4:c.3368T>A MANE Select	NP_071372.1:p.Leu1123Gln
NM_001141973.3:c.3353T>A	NP_001135445.1:p.Leu1118Gln
NM_001141974.3:c.3104-142T>A	NP_001135446.1:n.3104-142T>A

Linked Data

Genomic Alleles

Transcript Alleles