Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224529T>A , CM000679.2:g.7224529T>A	GRCh38
NC_000017.10:g.7127848T>A , CM000679.1:g.7127848T>A	GRCh37
NC_000017.9:g.7068572T>A	NCBI36
NG_007975.1:g.9696T>A
NG_008391.2:g.522A>T
NG_033038.1:g.15016A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1655T>A MANE Select	ENSP00000349297.5:p.Ile552Lys
ENST00000322910.9:c.*1610T>A	ENSP00000325395.5:n.*1610T>A
ENST00000350303.9:c.1589T>A	ENSP00000344152.5:p.Ile530Lys
ENST00000356839.9:c.1655T>A	ENSP00000349297.5:p.Ile552Lys
ENST00000542255.6:c.513T>A
ENST00000543245.6:c.1724T>A	ENSP00000438689.2:p.Ile575Lys
ENST00000578319.5:n.236T>A
ENST00000578711.1:n.1025T>A
ENST00000578809.5:n.227T>A
ENST00000579391.1:n.259T>A
ENST00000579425.5:n.771T>A
ENST00000579546.1:c.390T>A
ENST00000582450.1:n.163T>A
ENST00000583074.5:n.276T>A
ENST00000583848.5:c.41T>A	ENSP00000466487.1:p.Ile14Lys
ENST00000583850.5:n.426T>A
ENST00000583858.5:c.586T>A
ENST00000585203.6:n.846T>A
NM_000018.3:c.1655T>A	NP_000009.1:p.Ile552Lys
NM_001033859.2:c.1589T>A	NP_001029031.1:p.Ile530Lys
NM_001270447.1:c.1724T>A	NP_001257376.1:p.Ile575Lys
NM_001270448.1:c.1427T>A	NP_001257377.1:p.Ile476Lys
XM_006721516.2:c.1655T>A	XP_006721579.2:p.Ile552Lys
XM_011523829.1:c.1553T>A	XP_011522131.1:p.Ile518Lys
XM_011523830.1:c.1553T>A	XP_011522132.1:p.Ile518Lys
XR_934021.1:n.1758T>A
XR_934022.1:n.1664T>A
XR_934023.1:n.1664T>A
XM_006721516.3:c.1655T>A	XP_006721579.2:p.Ile552Lys
XM_011523829.2:c.1553T>A	XP_011522131.1:p.Ile518Lys
XM_011523830.2:c.1553T>A	XP_011522132.1:p.Ile518Lys
XM_024450741.1:c.1643T>A	XP_024306509.1:p.Ile548Lys
XR_934021.2:n.1710T>A
XR_934022.2:n.1616T>A
XR_934023.2:n.1616T>A
NM_000018.4:c.1655T>A MANE Select	NP_000009.1:p.Ile552Lys
NM_001033859.3:c.1589T>A	NP_001029031.1:p.Ile530Lys
NM_001270447.2:c.1724T>A	NP_001257376.1:p.Ile575Lys
NM_001270448.2:c.1427T>A	NP_001257377.1:p.Ile476Lys

Linked Data

Genomic Alleles

Transcript Alleles