Canonical Allele Identifier: CA1397750786

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993363T= , CM000665.2:g.121993363T=	GRCh38
NC_000003.11:g.121712210T= , CM000665.1:g.121712210T=	GRCh37
NC_000003.10:g.123194900T=	NCBI36
NG_031870.1:g.33918A=
NG_031870.2:g.72192A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1386A= MANE Select	ENSP00000345667.5:p.Arg462=
ENST00000460554.2:n.1336A=
ENST00000642615.1:c.*569A=	ENSP00000495499.1:n.*569A=
ENST00000273691.7:c.1254A=	ENSP00000273691.3:p.Arg418=
ENST00000344209.9:c.1386A=	ENSP00000345667.5:p.Arg462=
ENST00000393631.5:c.1119A=	ENSP00000377251.1:p.Arg373=
ENST00000460554.1:n.1488A=
ENST00000462014.1:c.1290A=	ENSP00000419414.1:p.Arg430=
NM_001199799.1:c.1386A=	NP_001186728.1:p.Arg462=
NM_001199800.1:c.1119A=	NP_001186729.1:p.Arg373=
NM_175924.3:c.1254A=	NP_787120.1:p.Arg418=
XM_005247389.3:c.1290A=	XP_005247446.1:p.Arg430=
XM_011512738.1:c.1386A=	XP_011511040.1:p.Arg462=
XM_011512739.1:c.849A=	XP_011511041.1:p.Arg283=
XM_005247389.4:c.1290A=	XP_005247446.1:p.Arg430=
XM_011512738.2:c.1386A=	XP_011511040.1:p.Arg462=
XM_011512739.2:c.849A=	XP_011511041.1:p.Arg283=
NM_001199799.2:c.1386A= MANE Select	NP_001186728.1:p.Arg462=
NM_001199800.2:c.1119A=	NP_001186729.1:p.Arg373=
NM_175924.4:c.1254A=	NP_787120.1:p.Arg418=