Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12590941C>T , CM000665.2:g.12590941C>T	GRCh38
NC_000003.11:g.12632440C>T , CM000665.1:g.12632440C>T	GRCh37
NC_000003.10:g.12607440C>T	NCBI36
NG_007467.1:g.78239G>A , LRG_413:g.78239G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*892G>A	ENSP00000401088.1:n.*892G>A
ENST00000432427.3:c.544G>A
ENST00000460610.2:n.21G>A
ENST00000465826.6:n.818G>A
ENST00000475353.2:n.1149G>A
ENST00000494557.2:n.1038G>A
ENST00000684903.1:c.*904G>A	ENSP00000508612.1:n.*904G>A
ENST00000685348.1:c.*904G>A	ENSP00000510285.1:n.*904G>A
ENST00000685437.1:c.1128G>A	ENSP00000508794.1:p.Met376Ile
ENST00000685653.1:c.1227G>A	ENSP00000509968.1:p.Met409Ile
ENST00000685738.1:c.*191G>A	ENSP00000510156.1:n.*191G>A
ENST00000686409.1:n.2278G>A
ENST00000686455.1:n.1590G>A
ENST00000686762.1:c.1227G>A	ENSP00000509767.1:p.Met409Ile
ENST00000687257.1:n.1463G>A
ENST00000687326.1:c.*161G>A	ENSP00000509665.1:n.*161G>A
ENST00000687505.1:n.1345G>A
ENST00000687923.1:c.1116G>A	ENSP00000510255.1:p.Met372Ile
ENST00000687940.1:n.1604G>A
ENST00000688269.1:n.1823G>A
ENST00000688326.1:c.660G>A
ENST00000688444.1:n.1553G>A
ENST00000688543.1:c.1128G>A	ENSP00000509612.1:p.Met376Ile
ENST00000688625.1:c.*805G>A	ENSP00000509522.1:n.*805G>A
ENST00000688803.1:n.1458G>A
ENST00000688914.1:n.213G>A
ENST00000689097.1:c.*904G>A	ENSP00000509756.1:n.*904G>A
ENST00000689389.1:c.1193+767G>A	ENSP00000510213.1:n.1193+767G>A
ENST00000689418.1:c.*904G>A	ENSP00000509467.1:n.*904G>A
ENST00000689481.1:c.*904G>A	ENSP00000510248.1:n.*904G>A
ENST00000689540.1:n.1377G>A
ENST00000689876.1:c.1227G>A	ENSP00000508535.1:p.Met409Ile
ENST00000689914.1:c.*161G>A	ENSP00000509847.1:n.*161G>A
ENST00000690397.1:c.1116G>A	ENSP00000508730.1:p.Met372Ile
ENST00000690460.1:c.1215G>A	ENSP00000509106.1:p.Met405Ile
ENST00000690585.1:c.119G>A
ENST00000690625.1:n.2263G>A
ENST00000691396.1:c.*1079G>A	ENSP00000510712.1:n.*1079G>A
ENST00000691724.1:c.*184G>A	ENSP00000509255.1:n.*184G>A
ENST00000691779.1:c.*805G>A	ENSP00000508592.1:n.*805G>A
ENST00000691888.1:c.119G>A
ENST00000691899.1:c.1227G>A	ENSP00000508763.1:p.Met409Ile
ENST00000692069.1:n.1793G>A
ENST00000692093.1:c.1128G>A	ENSP00000509669.1:p.Met376Ile
ENST00000692311.1:n.2051G>A
ENST00000692558.1:n.1592G>A
ENST00000692773.1:c.*964G>A	ENSP00000509055.1:n.*964G>A
ENST00000692830.1:c.*972G>A	ENSP00000509461.1:n.*972G>A
ENST00000693069.1:c.*161G>A	ENSP00000510072.1:n.*161G>A
ENST00000693312.1:c.1002G>A	ENSP00000508686.1:p.Met334Ile
ENST00000693664.1:c.1227G>A	ENSP00000509614.1:p.Met409Ile
ENST00000693705.1:c.*904G>A	ENSP00000510697.1:n.*904G>A
ENST00000251849.9:c.1227G>A MANE Select	ENSP00000251849.4:p.Met409Ile
ENST00000442415.7:c.1287G>A	ENSP00000401888.2:p.Met429Ile
ENST00000251849.8:c.1227G>A	ENSP00000251849.4:p.Met409Ile
ENST00000423275.5:c.*904G>A	ENSP00000401088.1:n.*904G>A
ENST00000432427.2:c.864G>A	ENSP00000398591.2:p.Met288Ile
ENST00000442415.6:c.1287G>A	ENSP00000401888.2:p.Met429Ile
ENST00000460610.1:n.184G>A
ENST00000465826.5:n.584G>A
ENST00000475353.1:n.395G>A
ENST00000494557.1:n.243G>A
NM_002880.3:c.1227G>A , LRG_413t1:c.1227G>A	NP_002871.1:p.Met409Ile
XM_005265355.1:c.1227G>A	XP_005265412.1:p.Met409Ile
XM_005265357.1:c.1128G>A	XP_005265414.1:p.Met376Ile
XM_005265358.3:c.984G>A	XP_005265415.1:p.Met328Ile
XM_005265359.3:c.885G>A	XP_005265416.1:p.Met295Ile
XM_005265360.1:c.1227G>A	XP_005265417.1:p.Met409Ile
XM_011533974.1:c.1227G>A	XP_011532276.1:p.Met409Ile
XM_011533975.1:c.984G>A	XP_011532277.1:p.Met328Ile
NM_001354689.1:c.1287G>A	NP_001341618.1:p.Met429Ile
NM_001354690.1:c.1227G>A	NP_001341619.1:p.Met409Ile
NM_001354691.1:c.984G>A	NP_001341620.1:p.Met328Ile
NM_001354692.1:c.984G>A	NP_001341621.1:p.Met328Ile
NM_001354693.1:c.1128G>A	NP_001341622.1:p.Met376Ile
NM_001354694.1:c.1044G>A	NP_001341623.1:p.Met348Ile
NM_001354695.1:c.885G>A	NP_001341624.1:p.Met295Ile
NR_148940.1:n.1755G>A
NR_148941.1:n.1701G>A
NR_148942.1:n.1640G>A
XM_011533974.3:c.1227G>A	XP_011532276.1:p.Met409Ile
XM_017006966.1:c.1128G>A	XP_016862455.1:p.Met376Ile
XR_001740227.1:n.1518G>A
NM_001354689.3:c.1287G>A	NP_001341618.1:p.Met429Ile
NM_001354690.2:c.1227G>A	NP_001341619.1:p.Met409Ile
NM_001354691.2:c.984G>A	NP_001341620.1:p.Met328Ile
NM_001354692.2:c.984G>A	NP_001341621.1:p.Met328Ile
NM_001354693.2:c.1128G>A	NP_001341622.1:p.Met376Ile
NM_001354694.2:c.1044G>A	NP_001341623.1:p.Met348Ile
NM_001354695.2:c.885G>A	NP_001341624.1:p.Met295Ile
NR_148940.2:n.1671G>A
NR_148941.2:n.1617G>A
NR_148942.2:n.1556G>A
NM_001354690.3:c.1227G>A	NP_001341619.1:p.Met409Ile
NM_001354691.3:c.984G>A	NP_001341620.1:p.Met328Ile
NM_001354692.3:c.984G>A	NP_001341621.1:p.Met328Ile
NM_001354693.3:c.1128G>A	NP_001341622.1:p.Met376Ile
NM_001354694.3:c.1044G>A	NP_001341623.1:p.Met348Ile
NM_001354695.3:c.885G>A	NP_001341624.1:p.Met295Ile
NM_002880.4:c.1227G>A MANE Select	NP_002871.1:p.Met409Ile
NR_148940.3:n.1671G>A
NR_148941.3:n.1617G>A
NR_148942.3:n.1556G>A

Linked Data

Genomic Alleles

Transcript Alleles