Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12604209C>T , CM000665.2:g.12604209C>T	GRCh38
NC_000003.11:g.12645708C>T , CM000665.1:g.12645708C>T	GRCh37
NC_000003.10:g.12620708C>T	NCBI36
NG_007467.1:g.64971G>A , LRG_413:g.64971G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000416093.2:c.*438G>A	ENSP00000391265.2:n.*438G>A
ENST00000423275.6:c.*438G>A	ENSP00000401088.1:n.*438G>A
ENST00000432427.3:c.81G>A
ENST00000465826.6:n.352G>A
ENST00000491290.2:n.1138G>A
ENST00000684903.1:c.*438G>A	ENSP00000508612.1:n.*438G>A
ENST00000685348.1:c.*438G>A	ENSP00000510285.1:n.*438G>A
ENST00000685437.1:c.662G>A	ENSP00000508794.1:p.Arg221Lys
ENST00000685653.1:c.761G>A	ENSP00000509968.1:p.Arg254Lys
ENST00000685738.1:c.761G>A	ENSP00000510156.1:p.Arg254Lys
ENST00000685959.1:c.761G>A	ENSP00000510452.1:p.Arg254Lys
ENST00000686409.1:n.1361G>A
ENST00000686455.1:n.1124G>A
ENST00000686479.1:n.1132G>A
ENST00000686762.1:c.761G>A	ENSP00000509767.1:p.Arg254Lys
ENST00000687257.1:n.997G>A
ENST00000687326.1:c.761G>A	ENSP00000509665.1:p.Arg254Lys
ENST00000687486.1:c.81G>A
ENST00000687505.1:n.879G>A
ENST00000687923.1:c.662G>A	ENSP00000510255.1:p.Arg221Lys
ENST00000687940.1:n.1138G>A
ENST00000688269.1:n.1369G>A
ENST00000688326.1:c.81G>A
ENST00000688444.1:n.1087G>A
ENST00000688543.1:c.662G>A	ENSP00000509612.1:p.Arg221Lys
ENST00000688625.1:c.*339G>A	ENSP00000509522.1:n.*339G>A
ENST00000688803.1:n.992G>A
ENST00000689033.1:c.761G>A	ENSP00000508983.1:p.Arg254Lys
ENST00000689097.1:c.*438G>A	ENSP00000509756.1:n.*438G>A
ENST00000689389.1:c.761G>A	ENSP00000510213.1:p.Arg254Lys
ENST00000689418.1:c.*438G>A	ENSP00000509467.1:n.*438G>A
ENST00000689481.1:c.*438G>A	ENSP00000510248.1:n.*438G>A
ENST00000689540.1:n.911G>A
ENST00000689876.1:c.761G>A	ENSP00000508535.1:p.Arg254Lys
ENST00000689914.1:c.761G>A	ENSP00000509847.1:p.Arg254Lys
ENST00000690397.1:c.662G>A	ENSP00000508730.1:p.Arg221Lys
ENST00000690460.1:c.761G>A	ENSP00000509106.1:p.Arg254Lys
ENST00000690625.1:n.1064G>A
ENST00000691268.1:c.262-3794G>A
ENST00000691396.1:c.*554G>A	ENSP00000510712.1:n.*554G>A
ENST00000691724.1:c.761G>A	ENSP00000509255.1:p.Arg254Lys
ENST00000691779.1:c.*339G>A	ENSP00000508592.1:n.*339G>A
ENST00000691899.1:c.761G>A	ENSP00000508763.1:p.Arg254Lys
ENST00000692093.1:c.662G>A	ENSP00000509669.1:p.Arg221Lys
ENST00000692311.1:n.1134G>A
ENST00000692558.1:n.1126G>A
ENST00000692773.1:c.*438G>A	ENSP00000509055.1:n.*438G>A
ENST00000692830.1:c.*506G>A	ENSP00000509461.1:n.*506G>A
ENST00000693069.1:c.662G>A	ENSP00000510072.1:p.Arg221Lys
ENST00000693312.1:c.536G>A	ENSP00000508686.1:p.Arg179Lys
ENST00000693664.1:c.761G>A	ENSP00000509614.1:p.Arg254Lys
ENST00000693705.1:c.*438G>A	ENSP00000510697.1:n.*438G>A
ENST00000251849.9:c.761G>A MANE Select	ENSP00000251849.4:p.Arg254Lys
ENST00000442415.7:c.761G>A	ENSP00000401888.2:p.Arg254Lys
ENST00000251849.8:c.761G>A	ENSP00000251849.4:p.Arg254Lys
ENST00000416093.1:c.*339G>A	ENSP00000391265.1:n.*339G>A
ENST00000423275.5:c.*438G>A	ENSP00000401088.1:n.*438G>A
ENST00000432427.2:c.398G>A	ENSP00000398591.2:p.Arg133Lys
ENST00000442415.6:c.761G>A	ENSP00000401888.2:p.Arg254Lys
ENST00000465826.5:n.5G>A
ENST00000491290.1:n.282G>A
NM_002880.3:c.761G>A , LRG_413t1:c.761G>A	NP_002871.1:p.Arg254Lys
XM_005265355.1:c.761G>A	XP_005265412.1:p.Arg254Lys
XM_005265357.1:c.662G>A	XP_005265414.1:p.Arg221Lys
XM_005265358.3:c.518G>A	XP_005265415.1:p.Arg173Lys
XM_005265359.3:c.419G>A	XP_005265416.1:p.Arg140Lys
XM_005265360.1:c.761G>A	XP_005265417.1:p.Arg254Lys
XM_011533974.1:c.761G>A	XP_011532276.1:p.Arg254Lys
XM_011533975.1:c.518G>A	XP_011532277.1:p.Arg173Lys
NM_001354689.1:c.761G>A	NP_001341618.1:p.Arg254Lys
NM_001354690.1:c.761G>A	NP_001341619.1:p.Arg254Lys
NM_001354691.1:c.518G>A	NP_001341620.1:p.Arg173Lys
NM_001354692.1:c.518G>A	NP_001341621.1:p.Arg173Lys
NM_001354693.1:c.662G>A	NP_001341622.1:p.Arg221Lys
NM_001354694.1:c.518G>A	NP_001341623.1:p.Arg173Lys
NM_001354695.1:c.419G>A	NP_001341624.1:p.Arg140Lys
NR_148940.1:n.1176G>A
NR_148941.1:n.1176G>A
NR_148942.1:n.1176G>A
XM_011533974.3:c.761G>A	XP_011532276.1:p.Arg254Lys
XM_017006966.1:c.662G>A	XP_016862455.1:p.Arg221Lys
XR_001740227.1:n.993G>A
NM_001354689.3:c.761G>A	NP_001341618.1:p.Arg254Lys
NM_001354690.2:c.761G>A	NP_001341619.1:p.Arg254Lys
NM_001354691.2:c.518G>A	NP_001341620.1:p.Arg173Lys
NM_001354692.2:c.518G>A	NP_001341621.1:p.Arg173Lys
NM_001354693.2:c.662G>A	NP_001341622.1:p.Arg221Lys
NM_001354694.2:c.518G>A	NP_001341623.1:p.Arg173Lys
NM_001354695.2:c.419G>A	NP_001341624.1:p.Arg140Lys
NR_148940.2:n.1092G>A
NR_148941.2:n.1092G>A
NR_148942.2:n.1092G>A
NM_001354690.3:c.761G>A	NP_001341619.1:p.Arg254Lys
NM_001354691.3:c.518G>A	NP_001341620.1:p.Arg173Lys
NM_001354692.3:c.518G>A	NP_001341621.1:p.Arg173Lys
NM_001354693.3:c.662G>A	NP_001341622.1:p.Arg221Lys
NM_001354694.3:c.518G>A	NP_001341623.1:p.Arg173Lys
NM_001354695.3:c.419G>A	NP_001341624.1:p.Arg140Lys
NM_002880.4:c.761G>A MANE Select	NP_002871.1:p.Arg254Lys
NR_148940.3:n.1092G>A
NR_148941.3:n.1092G>A
NR_148942.3:n.1092G>A

Linked Data

Genomic Alleles

Transcript Alleles