Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12590952G>T , CM000665.2:g.12590952G>T	GRCh38
NC_000003.11:g.12632451G>T , CM000665.1:g.12632451G>T	GRCh37
NC_000003.10:g.12607451G>T	NCBI36
NG_007467.1:g.78228C>A , LRG_413:g.78228C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*881C>A	ENSP00000401088.1:n.*881C>A
ENST00000432427.3:c.533C>A
ENST00000460610.2:n.10C>A
ENST00000465826.6:n.807C>A
ENST00000475353.2:n.1138C>A
ENST00000494557.2:n.1027C>A
ENST00000684903.1:c.*893C>A	ENSP00000508612.1:n.*893C>A
ENST00000685348.1:c.*893C>A	ENSP00000510285.1:n.*893C>A
ENST00000685437.1:c.1117C>A	ENSP00000508794.1:p.Leu373Met
ENST00000685653.1:c.1216C>A	ENSP00000509968.1:p.Leu406Met
ENST00000685738.1:c.*180C>A	ENSP00000510156.1:n.*180C>A
ENST00000686409.1:n.2267C>A
ENST00000686455.1:n.1579C>A
ENST00000686762.1:c.1216C>A	ENSP00000509767.1:p.Leu406Met
ENST00000687257.1:n.1452C>A
ENST00000687326.1:c.*150C>A	ENSP00000509665.1:n.*150C>A
ENST00000687505.1:n.1334C>A
ENST00000687923.1:c.1105C>A	ENSP00000510255.1:p.Leu369Met
ENST00000687940.1:n.1593C>A
ENST00000688269.1:n.1812C>A
ENST00000688326.1:c.649C>A
ENST00000688444.1:n.1542C>A
ENST00000688543.1:c.1117C>A	ENSP00000509612.1:p.Leu373Met
ENST00000688625.1:c.*794C>A	ENSP00000509522.1:n.*794C>A
ENST00000688803.1:n.1447C>A
ENST00000688914.1:n.202C>A
ENST00000689097.1:c.*893C>A	ENSP00000509756.1:n.*893C>A
ENST00000689389.1:c.1193+756C>A	ENSP00000510213.1:n.1193+756C>A
ENST00000689418.1:c.*893C>A	ENSP00000509467.1:n.*893C>A
ENST00000689481.1:c.*893C>A	ENSP00000510248.1:n.*893C>A
ENST00000689540.1:n.1366C>A
ENST00000689876.1:c.1216C>A	ENSP00000508535.1:p.Leu406Met
ENST00000689914.1:c.*150C>A	ENSP00000509847.1:n.*150C>A
ENST00000690397.1:c.1105C>A	ENSP00000508730.1:p.Leu369Met
ENST00000690460.1:c.1204C>A	ENSP00000509106.1:p.Leu402Met
ENST00000690585.1:c.108C>A
ENST00000690625.1:n.2252C>A
ENST00000691396.1:c.*1068C>A	ENSP00000510712.1:n.*1068C>A
ENST00000691724.1:c.*173C>A	ENSP00000509255.1:n.*173C>A
ENST00000691779.1:c.*794C>A	ENSP00000508592.1:n.*794C>A
ENST00000691888.1:c.108C>A
ENST00000691899.1:c.1216C>A	ENSP00000508763.1:p.Leu406Met
ENST00000692069.1:n.1782C>A
ENST00000692093.1:c.1117C>A	ENSP00000509669.1:p.Leu373Met
ENST00000692311.1:n.2040C>A
ENST00000692558.1:n.1581C>A
ENST00000692773.1:c.*953C>A	ENSP00000509055.1:n.*953C>A
ENST00000692830.1:c.*961C>A	ENSP00000509461.1:n.*961C>A
ENST00000693069.1:c.*150C>A	ENSP00000510072.1:n.*150C>A
ENST00000693312.1:c.991C>A	ENSP00000508686.1:p.Leu331Met
ENST00000693664.1:c.1216C>A	ENSP00000509614.1:p.Leu406Met
ENST00000693705.1:c.*893C>A	ENSP00000510697.1:n.*893C>A
ENST00000251849.9:c.1216C>A MANE Select	ENSP00000251849.4:p.Leu406Met
ENST00000442415.7:c.1276C>A	ENSP00000401888.2:p.Leu426Met
ENST00000251849.8:c.1216C>A	ENSP00000251849.4:p.Leu406Met
ENST00000423275.5:c.*893C>A	ENSP00000401088.1:n.*893C>A
ENST00000432427.2:c.853C>A	ENSP00000398591.2:p.Leu285Met
ENST00000442415.6:c.1276C>A	ENSP00000401888.2:p.Leu426Met
ENST00000460610.1:n.173C>A
ENST00000465826.5:n.573C>A
ENST00000475353.1:n.384C>A
ENST00000494557.1:n.232C>A
NM_002880.3:c.1216C>A , LRG_413t1:c.1216C>A	NP_002871.1:p.Leu406Met
XM_005265355.1:c.1216C>A	XP_005265412.1:p.Leu406Met
XM_005265357.1:c.1117C>A	XP_005265414.1:p.Leu373Met
XM_005265358.3:c.973C>A	XP_005265415.1:p.Leu325Met
XM_005265359.3:c.874C>A	XP_005265416.1:p.Leu292Met
XM_005265360.1:c.1216C>A	XP_005265417.1:p.Leu406Met
XM_011533974.1:c.1216C>A	XP_011532276.1:p.Leu406Met
XM_011533975.1:c.973C>A	XP_011532277.1:p.Leu325Met
NM_001354689.1:c.1276C>A	NP_001341618.1:p.Leu426Met
NM_001354690.1:c.1216C>A	NP_001341619.1:p.Leu406Met
NM_001354691.1:c.973C>A	NP_001341620.1:p.Leu325Met
NM_001354692.1:c.973C>A	NP_001341621.1:p.Leu325Met
NM_001354693.1:c.1117C>A	NP_001341622.1:p.Leu373Met
NM_001354694.1:c.1033C>A	NP_001341623.1:p.Leu345Met
NM_001354695.1:c.874C>A	NP_001341624.1:p.Leu292Met
NR_148940.1:n.1744C>A
NR_148941.1:n.1690C>A
NR_148942.1:n.1629C>A
XM_011533974.3:c.1216C>A	XP_011532276.1:p.Leu406Met
XM_017006966.1:c.1117C>A	XP_016862455.1:p.Leu373Met
XR_001740227.1:n.1507C>A
NM_001354689.3:c.1276C>A	NP_001341618.1:p.Leu426Met
NM_001354690.2:c.1216C>A	NP_001341619.1:p.Leu406Met
NM_001354691.2:c.973C>A	NP_001341620.1:p.Leu325Met
NM_001354692.2:c.973C>A	NP_001341621.1:p.Leu325Met
NM_001354693.2:c.1117C>A	NP_001341622.1:p.Leu373Met
NM_001354694.2:c.1033C>A	NP_001341623.1:p.Leu345Met
NM_001354695.2:c.874C>A	NP_001341624.1:p.Leu292Met
NR_148940.2:n.1660C>A
NR_148941.2:n.1606C>A
NR_148942.2:n.1545C>A
NM_001354690.3:c.1216C>A	NP_001341619.1:p.Leu406Met
NM_001354691.3:c.973C>A	NP_001341620.1:p.Leu325Met
NM_001354692.3:c.973C>A	NP_001341621.1:p.Leu325Met
NM_001354693.3:c.1117C>A	NP_001341622.1:p.Leu373Met
NM_001354694.3:c.1033C>A	NP_001341623.1:p.Leu345Met
NM_001354695.3:c.874C>A	NP_001341624.1:p.Leu292Met
NM_002880.4:c.1216C>A MANE Select	NP_002871.1:p.Leu406Met
NR_148940.3:n.1660C>A
NR_148941.3:n.1606C>A
NR_148942.3:n.1545C>A

Linked Data

Genomic Alleles

Transcript Alleles