Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38123208A>T , CM000684.2:g.38123208A>T	GRCh38
NC_000022.10:g.38519215A>T , CM000684.1:g.38519215A>T	GRCh37
NC_000022.9:g.36849161A>T	NCBI36
NG_007094.2:g.87483T>A
NG_007094.3:g.96571T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.1478T>A MANE Select	ENSP00000333142.3:p.Ile493Asn
ENST00000427114.6:c.782T>A	ENSP00000407743.2:p.Ile261Asn
ENST00000436218.6:c.*676T>A	ENSP00000401242.1:n.*676T>A
ENST00000655142.1:c.*336T>A	ENSP00000499715.1:n.*336T>A
ENST00000660610.1:c.1478T>A	ENSP00000499555.1:p.Ile493Asn
ENST00000663895.1:c.1478T>A	ENSP00000499712.1:p.Ile493Asn
ENST00000664587.1:c.1340T>A	ENSP00000499394.1:p.Ile447Asn
ENST00000665987.1:c.*1217T>A	ENSP00000499423.1:n.*1217T>A
ENST00000667521.1:c.1478T>A	ENSP00000499665.1:p.Ile493Asn
ENST00000668208.1:n.1446T>A
ENST00000668499.1:c.*1200T>A	ENSP00000499626.1:n.*1200T>A
ENST00000668949.1:c.1316T>A	ENSP00000499711.1:p.Ile439Asn
ENST00000671093.1:n.1410T>A
ENST00000673413.1:c.*1147T>A	ENSP00000500600.1:n.*1147T>A
ENST00000332509.7:c.1478T>A	ENSP00000333142.3:p.Ile493Asn
ENST00000335539.7:c.1316T>A	ENSP00000335149.3:p.Ile439Asn
ENST00000402064.5:c.1316T>A	ENSP00000386100.1:p.Ile439Asn
ENST00000448094.5:c.*83T>A	ENSP00000407106.1:n.*83T>A
ENST00000454670.1:c.123T>A
ENST00000490473.1:n.597T>A
ENST00000491986.1:n.489T>A
NM_001004426.1:c.1316T>A	NP_001004426.1:p.Ile439Asn
NM_001199562.1:c.1316T>A	NP_001186491.1:p.Ile439Asn
NM_003560.2:c.1478T>A	NP_003551.2:p.Ile493Asn
XM_005261764.1:c.1478T>A	XP_005261821.1:p.Ile493Asn
XM_005261765.1:c.1478T>A	XP_005261822.1:p.Ile493Asn
XM_005261766.1:c.1478T>A	XP_005261823.1:p.Ile493Asn
XM_006724332.2:c.1478T>A	XP_006724395.1:p.Ile493Asn
XM_011530422.1:c.1373T>A	XP_011528724.1:p.Ile458Asn
XM_011530423.1:c.944T>A	XP_011528725.1:p.Ile315Asn
XM_011530424.1:c.944T>A	XP_011528726.1:p.Ile315Asn
XM_011530425.1:c.944T>A	XP_011528727.1:p.Ile315Asn
XM_011530426.1:c.1478T>A	XP_011528728.1:p.Ile493Asn
XR_244390.1:n.1586T>A
XR_244392.1:n.1639T>A
XR_430411.1:n.1638T>A
XR_430412.1:n.1691T>A
XR_937937.1:n.1586T>A
XR_937938.1:n.1586T>A
XR_937939.1:n.1638T>A
XR_937940.1:n.1638T>A
NM_001004426.2:c.1316T>A	NP_001004426.1:p.Ile439Asn
NM_001199562.2:c.1316T>A	NP_001186491.1:p.Ile439Asn
NM_001349864.1:c.1478T>A	NP_001336793.1:p.Ile493Asn
NM_001349865.1:c.1316T>A	NP_001336794.1:p.Ile439Asn
NM_001349866.1:c.1316T>A	NP_001336795.1:p.Ile439Asn
NM_001349867.1:c.944T>A	NP_001336796.1:p.Ile315Asn
NM_001349868.1:c.800T>A	NP_001336797.1:p.Ile267Asn
NM_001349869.1:c.782T>A	NP_001336798.1:p.Ile261Asn
NM_003560.3:c.1478T>A	NP_003551.2:p.Ile493Asn
XM_005261764.3:c.1478T>A	XP_005261821.1:p.Ile493Asn
XM_005261765.2:c.1478T>A	XP_005261822.1:p.Ile493Asn
XM_006724332.4:c.1478T>A	XP_006724395.1:p.Ile493Asn
XM_011530426.3:c.1478T>A	XP_011528728.1:p.Ile493Asn
XM_017028983.1:c.782T>A	XP_016884472.1:p.Ile261Asn
XM_017028986.2:c.1316T>A	XP_016884475.1:p.Ile439Asn
XM_017028987.2:c.*83T>A	XP_016884476.1:n.*83T>A
XM_017028988.2:c.*91T>A	XP_016884477.1:n.*91T>A
XM_024452280.1:c.944T>A	XP_024308048.1:p.Ile315Asn
XM_024452281.1:c.944T>A	XP_024308049.1:p.Ile315Asn
XM_024452282.1:c.944T>A	XP_024308050.1:p.Ile315Asn
XM_024452283.1:c.800T>A	XP_024308051.1:p.Ile267Asn
XM_024452284.1:c.782T>A	XP_024308052.1:p.Ile261Asn
XM_024452285.1:c.782T>A	XP_024308053.1:p.Ile261Asn
XR_001755325.2:n.1570T>A
XR_001755327.2:n.1570T>A
XR_001755328.2:n.1622T>A
XR_244390.3:n.1570T>A
XR_937938.3:n.1570T>A
XR_937939.3:n.1622T>A
XR_937940.3:n.1622T>A
NM_001199562.3:c.1316T>A	NP_001186491.1:p.Ile439Asn
NM_001349864.2:c.1478T>A	NP_001336793.1:p.Ile493Asn
NM_001349865.2:c.1316T>A	NP_001336794.1:p.Ile439Asn
NM_001349866.2:c.1316T>A	NP_001336795.1:p.Ile439Asn
NM_001349867.2:c.944T>A	NP_001336796.1:p.Ile315Asn
NM_001349868.2:c.800T>A	NP_001336797.1:p.Ile267Asn
NM_001349869.2:c.782T>A	NP_001336798.1:p.Ile261Asn
NM_003560.4:c.1478T>A MANE Select	NP_003551.2:p.Ile493Asn
NM_001004426.3:c.1316T>A	NP_001004426.1:p.Ile439Asn

Linked Data

Genomic Alleles

Transcript Alleles