Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12590885C>T , CM000665.2:g.12590885C>T	GRCh38
NC_000003.11:g.12632384C>T , CM000665.1:g.12632384C>T	GRCh37
NC_000003.10:g.12607384C>T	NCBI36
NG_007467.1:g.78295G>A , LRG_413:g.78295G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*948G>A	ENSP00000401088.1:n.*948G>A
ENST00000432427.3:c.600G>A
ENST00000460610.2:n.77G>A
ENST00000465826.6:n.874G>A
ENST00000475353.2:n.1205G>A
ENST00000494557.2:n.1094G>A
ENST00000684903.1:c.*960G>A	ENSP00000508612.1:n.*960G>A
ENST00000685348.1:c.*960G>A	ENSP00000510285.1:n.*960G>A
ENST00000685437.1:c.1184G>A	ENSP00000508794.1:p.Ser395Asn
ENST00000685653.1:c.1283G>A	ENSP00000509968.1:p.Ser428Asn
ENST00000685738.1:c.*247G>A	ENSP00000510156.1:n.*247G>A
ENST00000686409.1:n.2334G>A
ENST00000686455.1:n.1646G>A
ENST00000686762.1:c.1283G>A	ENSP00000509767.1:p.Ser428Asn
ENST00000687257.1:n.1519G>A
ENST00000687326.1:c.*217G>A	ENSP00000509665.1:n.*217G>A
ENST00000687505.1:n.1401G>A
ENST00000687923.1:c.1172G>A	ENSP00000510255.1:p.Ser391Asn
ENST00000687940.1:n.1660G>A
ENST00000688269.1:n.1879G>A
ENST00000688326.1:c.716G>A
ENST00000688444.1:n.1609G>A
ENST00000688543.1:c.1184G>A	ENSP00000509612.1:p.Ser395Asn
ENST00000688625.1:c.*861G>A	ENSP00000509522.1:n.*861G>A
ENST00000688803.1:n.1514G>A
ENST00000688914.1:n.269G>A
ENST00000689097.1:c.*960G>A	ENSP00000509756.1:n.*960G>A
ENST00000689389.1:c.1193+823G>A	ENSP00000510213.1:n.1193+823G>A
ENST00000689418.1:c.*960G>A	ENSP00000509467.1:n.*960G>A
ENST00000689481.1:c.*960G>A	ENSP00000510248.1:n.*960G>A
ENST00000689540.1:n.1433G>A
ENST00000689876.1:c.1283G>A	ENSP00000508535.1:p.Ser428Asn
ENST00000689914.1:c.*217G>A	ENSP00000509847.1:n.*217G>A
ENST00000690397.1:c.1172G>A	ENSP00000508730.1:p.Ser391Asn
ENST00000690460.1:c.1271G>A	ENSP00000509106.1:p.Ser424Asn
ENST00000690585.1:c.175G>A
ENST00000690625.1:n.2319G>A
ENST00000691396.1:c.*1135G>A	ENSP00000510712.1:n.*1135G>A
ENST00000691724.1:c.*240G>A	ENSP00000509255.1:n.*240G>A
ENST00000691779.1:c.*861G>A	ENSP00000508592.1:n.*861G>A
ENST00000691888.1:c.175G>A
ENST00000691899.1:c.1283G>A	ENSP00000508763.1:p.Ser428Asn
ENST00000692069.1:n.1849G>A
ENST00000692093.1:c.1184G>A	ENSP00000509669.1:p.Ser395Asn
ENST00000692311.1:n.2107G>A
ENST00000692558.1:n.1648G>A
ENST00000692773.1:c.*1020G>A	ENSP00000509055.1:n.*1020G>A
ENST00000692830.1:c.*1028G>A	ENSP00000509461.1:n.*1028G>A
ENST00000693069.1:c.*217G>A	ENSP00000510072.1:n.*217G>A
ENST00000693312.1:c.1058G>A	ENSP00000508686.1:p.Ser353Asn
ENST00000693664.1:c.1283G>A	ENSP00000509614.1:p.Ser428Asn
ENST00000693705.1:c.*960G>A	ENSP00000510697.1:n.*960G>A
ENST00000251849.9:c.1283G>A MANE Select	ENSP00000251849.4:p.Ser428Asn
ENST00000442415.7:c.1343G>A	ENSP00000401888.2:p.Ser448Asn
ENST00000251849.8:c.1283G>A	ENSP00000251849.4:p.Ser428Asn
ENST00000423275.5:c.*960G>A	ENSP00000401088.1:n.*960G>A
ENST00000432427.2:c.920G>A	ENSP00000398591.2:p.Ser307Asn
ENST00000442415.6:c.1343G>A	ENSP00000401888.2:p.Ser448Asn
ENST00000460610.1:n.240G>A
ENST00000465826.5:n.640G>A
ENST00000475353.1:n.451G>A
ENST00000494557.1:n.299G>A
NM_002880.3:c.1283G>A , LRG_413t1:c.1283G>A	NP_002871.1:p.Ser428Asn
XM_005265355.1:c.1283G>A	XP_005265412.1:p.Ser428Asn
XM_005265357.1:c.1184G>A	XP_005265414.1:p.Ser395Asn
XM_005265358.3:c.1040G>A	XP_005265415.1:p.Ser347Asn
XM_005265359.3:c.941G>A	XP_005265416.1:p.Ser314Asn
XM_005265360.1:c.1283G>A	XP_005265417.1:p.Ser428Asn
XM_011533974.1:c.1283G>A	XP_011532276.1:p.Ser428Asn
XM_011533975.1:c.1040G>A	XP_011532277.1:p.Ser347Asn
NM_001354689.1:c.1343G>A	NP_001341618.1:p.Ser448Asn
NM_001354690.1:c.1283G>A	NP_001341619.1:p.Ser428Asn
NM_001354691.1:c.1040G>A	NP_001341620.1:p.Ser347Asn
NM_001354692.1:c.1040G>A	NP_001341621.1:p.Ser347Asn
NM_001354693.1:c.1184G>A	NP_001341622.1:p.Ser395Asn
NM_001354694.1:c.1100G>A	NP_001341623.1:p.Ser367Asn
NM_001354695.1:c.941G>A	NP_001341624.1:p.Ser314Asn
NR_148940.1:n.1811G>A
NR_148941.1:n.1757G>A
NR_148942.1:n.1696G>A
XM_011533974.3:c.1283G>A	XP_011532276.1:p.Ser428Asn
XM_017006966.1:c.1184G>A	XP_016862455.1:p.Ser395Asn
NM_001354689.3:c.1343G>A	NP_001341618.1:p.Ser448Asn
NM_001354690.2:c.1283G>A	NP_001341619.1:p.Ser428Asn
NM_001354691.2:c.1040G>A	NP_001341620.1:p.Ser347Asn
NM_001354692.2:c.1040G>A	NP_001341621.1:p.Ser347Asn
NM_001354693.2:c.1184G>A	NP_001341622.1:p.Ser395Asn
NM_001354694.2:c.1100G>A	NP_001341623.1:p.Ser367Asn
NM_001354695.2:c.941G>A	NP_001341624.1:p.Ser314Asn
NR_148940.2:n.1727G>A
NR_148941.2:n.1673G>A
NR_148942.2:n.1612G>A
NM_001354690.3:c.1283G>A	NP_001341619.1:p.Ser428Asn
NM_001354691.3:c.1040G>A	NP_001341620.1:p.Ser347Asn
NM_001354692.3:c.1040G>A	NP_001341621.1:p.Ser347Asn
NM_001354693.3:c.1184G>A	NP_001341622.1:p.Ser395Asn
NM_001354694.3:c.1100G>A	NP_001341623.1:p.Ser367Asn
NM_001354695.3:c.941G>A	NP_001341624.1:p.Ser314Asn
NM_002880.4:c.1283G>A MANE Select	NP_002871.1:p.Ser428Asn
NR_148940.3:n.1727G>A
NR_148941.3:n.1673G>A
NR_148942.3:n.1612G>A

Linked Data

Genomic Alleles

Transcript Alleles