Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12590915G>T , CM000665.2:g.12590915G>T	GRCh38
NC_000003.11:g.12632414G>T , CM000665.1:g.12632414G>T	GRCh37
NC_000003.10:g.12607414G>T	NCBI36
NG_007467.1:g.78265C>A , LRG_413:g.78265C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*918C>A	ENSP00000401088.1:n.*918C>A
ENST00000432427.3:c.570C>A
ENST00000460610.2:n.47C>A
ENST00000465826.6:n.844C>A
ENST00000475353.2:n.1175C>A
ENST00000494557.2:n.1064C>A
ENST00000684903.1:c.*930C>A	ENSP00000508612.1:n.*930C>A
ENST00000685348.1:c.*930C>A	ENSP00000510285.1:n.*930C>A
ENST00000685437.1:c.1154C>A	ENSP00000508794.1:p.Ala385Glu
ENST00000685653.1:c.1253C>A	ENSP00000509968.1:p.Ala418Glu
ENST00000685738.1:c.*217C>A	ENSP00000510156.1:n.*217C>A
ENST00000686409.1:n.2304C>A
ENST00000686455.1:n.1616C>A
ENST00000686762.1:c.1253C>A	ENSP00000509767.1:p.Ala418Glu
ENST00000687257.1:n.1489C>A
ENST00000687326.1:c.*187C>A	ENSP00000509665.1:n.*187C>A
ENST00000687505.1:n.1371C>A
ENST00000687923.1:c.1142C>A	ENSP00000510255.1:p.Ala381Glu
ENST00000687940.1:n.1630C>A
ENST00000688269.1:n.1849C>A
ENST00000688326.1:c.686C>A
ENST00000688444.1:n.1579C>A
ENST00000688543.1:c.1154C>A	ENSP00000509612.1:p.Ala385Glu
ENST00000688625.1:c.*831C>A	ENSP00000509522.1:n.*831C>A
ENST00000688803.1:n.1484C>A
ENST00000688914.1:n.239C>A
ENST00000689097.1:c.*930C>A	ENSP00000509756.1:n.*930C>A
ENST00000689389.1:c.1193+793C>A	ENSP00000510213.1:n.1193+793C>A
ENST00000689418.1:c.*930C>A	ENSP00000509467.1:n.*930C>A
ENST00000689481.1:c.*930C>A	ENSP00000510248.1:n.*930C>A
ENST00000689540.1:n.1403C>A
ENST00000689876.1:c.1253C>A	ENSP00000508535.1:p.Ala418Glu
ENST00000689914.1:c.*187C>A	ENSP00000509847.1:n.*187C>A
ENST00000690397.1:c.1142C>A	ENSP00000508730.1:p.Ala381Glu
ENST00000690460.1:c.1241C>A	ENSP00000509106.1:p.Ala414Glu
ENST00000690585.1:c.145C>A
ENST00000690625.1:n.2289C>A
ENST00000691396.1:c.*1105C>A	ENSP00000510712.1:n.*1105C>A
ENST00000691724.1:c.*210C>A	ENSP00000509255.1:n.*210C>A
ENST00000691779.1:c.*831C>A	ENSP00000508592.1:n.*831C>A
ENST00000691888.1:c.145C>A
ENST00000691899.1:c.1253C>A	ENSP00000508763.1:p.Ala418Glu
ENST00000692069.1:n.1819C>A
ENST00000692093.1:c.1154C>A	ENSP00000509669.1:p.Ala385Glu
ENST00000692311.1:n.2077C>A
ENST00000692558.1:n.1618C>A
ENST00000692773.1:c.*990C>A	ENSP00000509055.1:n.*990C>A
ENST00000692830.1:c.*998C>A	ENSP00000509461.1:n.*998C>A
ENST00000693069.1:c.*187C>A	ENSP00000510072.1:n.*187C>A
ENST00000693312.1:c.1028C>A	ENSP00000508686.1:p.Ala343Glu
ENST00000693664.1:c.1253C>A	ENSP00000509614.1:p.Ala418Glu
ENST00000693705.1:c.*930C>A	ENSP00000510697.1:n.*930C>A
ENST00000251849.9:c.1253C>A MANE Select	ENSP00000251849.4:p.Ala418Glu
ENST00000442415.7:c.1313C>A	ENSP00000401888.2:p.Ala438Glu
ENST00000251849.8:c.1253C>A	ENSP00000251849.4:p.Ala418Glu
ENST00000423275.5:c.*930C>A	ENSP00000401088.1:n.*930C>A
ENST00000432427.2:c.890C>A	ENSP00000398591.2:p.Ala297Glu
ENST00000442415.6:c.1313C>A	ENSP00000401888.2:p.Ala438Glu
ENST00000460610.1:n.210C>A
ENST00000465826.5:n.610C>A
ENST00000475353.1:n.421C>A
ENST00000494557.1:n.269C>A
NM_002880.3:c.1253C>A , LRG_413t1:c.1253C>A	NP_002871.1:p.Ala418Glu
XM_005265355.1:c.1253C>A	XP_005265412.1:p.Ala418Glu
XM_005265357.1:c.1154C>A	XP_005265414.1:p.Ala385Glu
XM_005265358.3:c.1010C>A	XP_005265415.1:p.Ala337Glu
XM_005265359.3:c.911C>A	XP_005265416.1:p.Ala304Glu
XM_005265360.1:c.1253C>A	XP_005265417.1:p.Ala418Glu
XM_011533974.1:c.1253C>A	XP_011532276.1:p.Ala418Glu
XM_011533975.1:c.1010C>A	XP_011532277.1:p.Ala337Glu
NM_001354689.1:c.1313C>A	NP_001341618.1:p.Ala438Glu
NM_001354690.1:c.1253C>A	NP_001341619.1:p.Ala418Glu
NM_001354691.1:c.1010C>A	NP_001341620.1:p.Ala337Glu
NM_001354692.1:c.1010C>A	NP_001341621.1:p.Ala337Glu
NM_001354693.1:c.1154C>A	NP_001341622.1:p.Ala385Glu
NM_001354694.1:c.1070C>A	NP_001341623.1:p.Ala357Glu
NM_001354695.1:c.911C>A	NP_001341624.1:p.Ala304Glu
NR_148940.1:n.1781C>A
NR_148941.1:n.1727C>A
NR_148942.1:n.1666C>A
XM_011533974.3:c.1253C>A	XP_011532276.1:p.Ala418Glu
XM_017006966.1:c.1154C>A	XP_016862455.1:p.Ala385Glu
NM_001354689.3:c.1313C>A	NP_001341618.1:p.Ala438Glu
NM_001354690.2:c.1253C>A	NP_001341619.1:p.Ala418Glu
NM_001354691.2:c.1010C>A	NP_001341620.1:p.Ala337Glu
NM_001354692.2:c.1010C>A	NP_001341621.1:p.Ala337Glu
NM_001354693.2:c.1154C>A	NP_001341622.1:p.Ala385Glu
NM_001354694.2:c.1070C>A	NP_001341623.1:p.Ala357Glu
NM_001354695.2:c.911C>A	NP_001341624.1:p.Ala304Glu
NR_148940.2:n.1697C>A
NR_148941.2:n.1643C>A
NR_148942.2:n.1582C>A
NM_001354690.3:c.1253C>A	NP_001341619.1:p.Ala418Glu
NM_001354691.3:c.1010C>A	NP_001341620.1:p.Ala337Glu
NM_001354692.3:c.1010C>A	NP_001341621.1:p.Ala337Glu
NM_001354693.3:c.1154C>A	NP_001341622.1:p.Ala385Glu
NM_001354694.3:c.1070C>A	NP_001341623.1:p.Ala357Glu
NM_001354695.3:c.911C>A	NP_001341624.1:p.Ala304Glu
NM_002880.4:c.1253C>A MANE Select	NP_002871.1:p.Ala418Glu
NR_148940.3:n.1697C>A
NR_148941.3:n.1643C>A
NR_148942.3:n.1582C>A

Linked Data

Genomic Alleles

Transcript Alleles