Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12590951A>T , CM000665.2:g.12590951A>T	GRCh38
NC_000003.11:g.12632450A>T , CM000665.1:g.12632450A>T	GRCh37
NC_000003.10:g.12607450A>T	NCBI36
NG_007467.1:g.78229T>A , LRG_413:g.78229T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*882T>A	ENSP00000401088.1:n.*882T>A
ENST00000432427.3:c.534T>A
ENST00000460610.2:n.11T>A
ENST00000465826.6:n.808T>A
ENST00000475353.2:n.1139T>A
ENST00000494557.2:n.1028T>A
ENST00000684903.1:c.*894T>A	ENSP00000508612.1:n.*894T>A
ENST00000685348.1:c.*894T>A	ENSP00000510285.1:n.*894T>A
ENST00000685437.1:c.1118T>A	ENSP00000508794.1:p.Leu373Gln
ENST00000685653.1:c.1217T>A	ENSP00000509968.1:p.Leu406Gln
ENST00000685738.1:c.*181T>A	ENSP00000510156.1:n.*181T>A
ENST00000686409.1:n.2268T>A
ENST00000686455.1:n.1580T>A
ENST00000686762.1:c.1217T>A	ENSP00000509767.1:p.Leu406Gln
ENST00000687257.1:n.1453T>A
ENST00000687326.1:c.*151T>A	ENSP00000509665.1:n.*151T>A
ENST00000687505.1:n.1335T>A
ENST00000687923.1:c.1106T>A	ENSP00000510255.1:p.Leu369Gln
ENST00000687940.1:n.1594T>A
ENST00000688269.1:n.1813T>A
ENST00000688326.1:c.650T>A
ENST00000688444.1:n.1543T>A
ENST00000688543.1:c.1118T>A	ENSP00000509612.1:p.Leu373Gln
ENST00000688625.1:c.*795T>A	ENSP00000509522.1:n.*795T>A
ENST00000688803.1:n.1448T>A
ENST00000688914.1:n.203T>A
ENST00000689097.1:c.*894T>A	ENSP00000509756.1:n.*894T>A
ENST00000689389.1:c.1193+757T>A	ENSP00000510213.1:n.1193+757T>A
ENST00000689418.1:c.*894T>A	ENSP00000509467.1:n.*894T>A
ENST00000689481.1:c.*894T>A	ENSP00000510248.1:n.*894T>A
ENST00000689540.1:n.1367T>A
ENST00000689876.1:c.1217T>A	ENSP00000508535.1:p.Leu406Gln
ENST00000689914.1:c.*151T>A	ENSP00000509847.1:n.*151T>A
ENST00000690397.1:c.1106T>A	ENSP00000508730.1:p.Leu369Gln
ENST00000690460.1:c.1205T>A	ENSP00000509106.1:p.Leu402Gln
ENST00000690585.1:c.109T>A
ENST00000690625.1:n.2253T>A
ENST00000691396.1:c.*1069T>A	ENSP00000510712.1:n.*1069T>A
ENST00000691724.1:c.*174T>A	ENSP00000509255.1:n.*174T>A
ENST00000691779.1:c.*795T>A	ENSP00000508592.1:n.*795T>A
ENST00000691888.1:c.109T>A
ENST00000691899.1:c.1217T>A	ENSP00000508763.1:p.Leu406Gln
ENST00000692069.1:n.1783T>A
ENST00000692093.1:c.1118T>A	ENSP00000509669.1:p.Leu373Gln
ENST00000692311.1:n.2041T>A
ENST00000692558.1:n.1582T>A
ENST00000692773.1:c.*954T>A	ENSP00000509055.1:n.*954T>A
ENST00000692830.1:c.*962T>A	ENSP00000509461.1:n.*962T>A
ENST00000693069.1:c.*151T>A	ENSP00000510072.1:n.*151T>A
ENST00000693312.1:c.992T>A	ENSP00000508686.1:p.Leu331Gln
ENST00000693664.1:c.1217T>A	ENSP00000509614.1:p.Leu406Gln
ENST00000693705.1:c.*894T>A	ENSP00000510697.1:n.*894T>A
ENST00000251849.9:c.1217T>A MANE Select	ENSP00000251849.4:p.Leu406Gln
ENST00000442415.7:c.1277T>A	ENSP00000401888.2:p.Leu426Gln
ENST00000251849.8:c.1217T>A	ENSP00000251849.4:p.Leu406Gln
ENST00000423275.5:c.*894T>A	ENSP00000401088.1:n.*894T>A
ENST00000432427.2:c.854T>A	ENSP00000398591.2:p.Leu285Gln
ENST00000442415.6:c.1277T>A	ENSP00000401888.2:p.Leu426Gln
ENST00000460610.1:n.174T>A
ENST00000465826.5:n.574T>A
ENST00000475353.1:n.385T>A
ENST00000494557.1:n.233T>A
NM_002880.3:c.1217T>A , LRG_413t1:c.1217T>A	NP_002871.1:p.Leu406Gln
XM_005265355.1:c.1217T>A	XP_005265412.1:p.Leu406Gln
XM_005265357.1:c.1118T>A	XP_005265414.1:p.Leu373Gln
XM_005265358.3:c.974T>A	XP_005265415.1:p.Leu325Gln
XM_005265359.3:c.875T>A	XP_005265416.1:p.Leu292Gln
XM_005265360.1:c.1217T>A	XP_005265417.1:p.Leu406Gln
XM_011533974.1:c.1217T>A	XP_011532276.1:p.Leu406Gln
XM_011533975.1:c.974T>A	XP_011532277.1:p.Leu325Gln
NM_001354689.1:c.1277T>A	NP_001341618.1:p.Leu426Gln
NM_001354690.1:c.1217T>A	NP_001341619.1:p.Leu406Gln
NM_001354691.1:c.974T>A	NP_001341620.1:p.Leu325Gln
NM_001354692.1:c.974T>A	NP_001341621.1:p.Leu325Gln
NM_001354693.1:c.1118T>A	NP_001341622.1:p.Leu373Gln
NM_001354694.1:c.1034T>A	NP_001341623.1:p.Leu345Gln
NM_001354695.1:c.875T>A	NP_001341624.1:p.Leu292Gln
NR_148940.1:n.1745T>A
NR_148941.1:n.1691T>A
NR_148942.1:n.1630T>A
XM_011533974.3:c.1217T>A	XP_011532276.1:p.Leu406Gln
XM_017006966.1:c.1118T>A	XP_016862455.1:p.Leu373Gln
XR_001740227.1:n.1508T>A
NM_001354689.3:c.1277T>A	NP_001341618.1:p.Leu426Gln
NM_001354690.2:c.1217T>A	NP_001341619.1:p.Leu406Gln
NM_001354691.2:c.974T>A	NP_001341620.1:p.Leu325Gln
NM_001354692.2:c.974T>A	NP_001341621.1:p.Leu325Gln
NM_001354693.2:c.1118T>A	NP_001341622.1:p.Leu373Gln
NM_001354694.2:c.1034T>A	NP_001341623.1:p.Leu345Gln
NM_001354695.2:c.875T>A	NP_001341624.1:p.Leu292Gln
NR_148940.2:n.1661T>A
NR_148941.2:n.1607T>A
NR_148942.2:n.1546T>A
NM_001354690.3:c.1217T>A	NP_001341619.1:p.Leu406Gln
NM_001354691.3:c.974T>A	NP_001341620.1:p.Leu325Gln
NM_001354692.3:c.974T>A	NP_001341621.1:p.Leu325Gln
NM_001354693.3:c.1118T>A	NP_001341622.1:p.Leu373Gln
NM_001354694.3:c.1034T>A	NP_001341623.1:p.Leu345Gln
NM_001354695.3:c.875T>A	NP_001341624.1:p.Leu292Gln
NM_002880.4:c.1217T>A MANE Select	NP_002871.1:p.Leu406Gln
NR_148940.3:n.1661T>A
NR_148941.3:n.1607T>A
NR_148942.3:n.1546T>A

Linked Data

Genomic Alleles

Transcript Alleles