Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551919C>T , CM000664.2:g.85551919C>T	GRCh38
NC_000002.11:g.85779042C>T , CM000664.1:g.85779042C>T	GRCh37
NC_000002.10:g.85632553C>T	NCBI36
NG_011811.2:g.14616G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5980G>A
ENST00000482662.2:n.4387G>A
ENST00000685865.1:n.2339G>A
ENST00000687250.1:n.2039G>A
ENST00000687995.1:n.1854G>A
ENST00000688205.1:c.*1095G>A	ENSP00000509673.1:n.*1095G>A
ENST00000688788.1:n.1741G>A
ENST00000689276.1:c.1433G>A	ENSP00000510012.1:p.Trp478Ter
ENST00000689576.1:c.*121G>A	ENSP00000508712.1:n.*121G>A
ENST00000690108.1:c.*1158G>A	ENSP00000510617.1:n.*1158G>A
ENST00000690468.1:c.*54G>A	ENSP00000509078.1:n.*54G>A
ENST00000690595.1:c.827G>A	ENSP00000508979.1:p.Trp276Ter
ENST00000691348.1:c.*54G>A	ENSP00000509369.1:n.*54G>A
ENST00000691410.1:c.*1079G>A	ENSP00000508479.1:n.*1079G>A
ENST00000693287.1:c.818G>A	ENSP00000510264.1:p.Trp273Ter
ENST00000693681.1:c.815G>A	ENSP00000510789.1:p.Trp272Ter
ENST00000233838.9:c.1502G>A MANE Select	ENSP00000233838.3:p.Trp501Ter
ENST00000233838.8:c.1502G>A	ENSP00000233838.3:p.Trp501Ter
ENST00000430215.7:c.1331G>A	ENSP00000408045.3:p.Trp444Ter
ENST00000465637.5:n.179-3915G>A
NM_000821.5:c.1502G>A	NP_000812.2:p.Trp501Ter
NM_000821.6:c.1502G>A	NP_000812.2:p.Trp501Ter
NM_001142269.2:c.1331G>A	NP_001135741.1:p.Trp444Ter
NM_001142269.3:c.1331G>A	NP_001135741.1:p.Trp444Ter
XM_005264259.3:c.1502G>A	XP_005264316.1:p.Trp501Ter
XM_011532764.1:c.680G>A	XP_011531066.1:p.Trp227Ter
XM_011532765.1:c.680G>A	XP_011531067.1:p.Trp227Ter
XR_939677.1:n.1415G>A
XM_005264259.5:c.1502G>A	XP_005264316.1:p.Trp501Ter
XM_011532764.3:c.680G>A	XP_011531066.1:p.Trp227Ter
XM_011532765.3:c.680G>A	XP_011531067.1:p.Trp227Ter
XM_017003803.2:c.1331G>A	XP_016859292.1:p.Trp444Ter
XR_001738703.2:n.1415G>A
NM_000821.7:c.1502G>A MANE Select	NP_000812.2:p.Trp501Ter
NM_001142269.4:c.1331G>A	NP_001135741.1:p.Trp444Ter

Linked Data

Genomic Alleles

Transcript Alleles