Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92059208G>T , CM000671.2:g.92059208G>T	GRCh38
NC_000009.11:g.94821490G>T , CM000671.1:g.94821490G>T	GRCh37
NC_000009.10:g.93861311G>T	NCBI36
NG_007950.1:g.61201C>A , LRG_272:g.61201C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.1071C>A
ENST00000686600.1:c.661C>A	ENSP00000509268.1:p.Leu221Ile
ENST00000686799.1:n.758C>A
ENST00000687427.1:c.661C>A	ENSP00000509426.1:p.Leu221Ile
ENST00000687817.1:c.*464C>A	ENSP00000508926.1:n.*464C>A
ENST00000687972.1:c.721C>A	ENSP00000509208.1:p.Leu241Ile
ENST00000689261.1:n.568C>A
ENST00000689401.1:c.*911C>A	ENSP00000510251.1:n.*911C>A
ENST00000689423.1:c.*911C>A	ENSP00000508519.1:n.*911C>A
ENST00000690095.1:n.989C>A
ENST00000690139.1:c.*362C>A	ENSP00000510483.1:n.*362C>A
ENST00000692458.1:n.684C>A
ENST00000693147.1:c.*677C>A	ENSP00000510358.1:n.*677C>A
ENST00000262554.7:c.661C>A MANE Select	ENSP00000262554.2:p.Leu221Ile
ENST00000642671.1:c.706C>A	ENSP00000495764.1:n.706C>A
ENST00000643599.1:c.533C>A	ENSP00000494770.1:n.533C>A
ENST00000644140.1:c.*402C>A	ENSP00000493933.1:n.*402C>A
ENST00000646481.1:c.533C>A	ENSP00000496627.1:n.533C>A
ENST00000646534.1:c.*464C>A	ENSP00000495388.1:n.*464C>A
ENST00000262554.6:c.661C>A	ENSP00000262554.2:p.Leu221Ile
ENST00000482632.5:n.808C>A
NM_001281303.1:c.661C>A	NP_001268232.1:p.Leu221Ile
NM_006415.3:c.661C>A	NP_006406.1:p.Leu221Ile
XM_011518138.1:c.661C>A	XP_011516440.1:p.Leu221Ile
XM_011518139.1:c.196C>A	XP_011516441.1:p.Leu66Ile
XM_011518138.2:c.661C>A	XP_011516440.1:p.Leu221Ile
XM_011518139.3:c.196C>A	XP_011516441.1:p.Leu66Ile
XM_017014200.2:c.295C>A	XP_016869689.1:p.Leu99Ile
XM_017014201.2:c.295C>A	XP_016869690.1:p.Leu99Ile
XM_024447378.1:c.196C>A	XP_024303146.1:p.Leu66Ile
XM_024447379.1:c.196C>A	XP_024303147.1:p.Leu66Ile
XR_002956744.1:n.811C>A
NM_006415.4:c.661C>A MANE Select	NP_006406.1:p.Leu221Ile
NM_001281303.2:c.661C>A	NP_001268232.1:p.Leu221Ile
NM_001368272.1:c.295C>A	NP_001355201.1:p.Leu99Ile
NM_001368273.1:c.196C>A	NP_001355202.1:p.Leu66Ile