Canonical Allele Identifier: CA1397750691

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993186C= , CM000665.2:g.121993186C=	GRCh38
NC_000003.11:g.121712033C= , CM000665.1:g.121712033C=	GRCh37
NC_000003.10:g.123194723C=	NCBI36
NG_031870.1:g.34095G=
NG_031870.2:g.72369G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1563G= MANE Select	ENSP00000345667.5:p.Lys521=
ENST00000460554.2:n.1513G=
ENST00000642615.1:c.*746G=	ENSP00000495499.1:n.*746G=
ENST00000273691.7:c.1431G=	ENSP00000273691.3:p.Lys477=
ENST00000344209.9:c.1563G=	ENSP00000345667.5:p.Lys521=
ENST00000393631.5:c.1296G=	ENSP00000377251.1:p.Lys432=
ENST00000460554.1:n.1665G=
ENST00000462014.1:c.1467G=	ENSP00000419414.1:p.Lys489=
NM_001199799.1:c.1563G=	NP_001186728.1:p.Lys521=
NM_001199800.1:c.1296G=	NP_001186729.1:p.Lys432=
NM_175924.3:c.1431G=	NP_787120.1:p.Lys477=
XM_005247389.3:c.1467G=	XP_005247446.1:p.Lys489=
XM_011512738.1:c.1558+5G=	XP_011511040.1:n.1558+5G=
XM_011512739.1:c.1026G=	XP_011511041.1:p.Lys342=
XM_005247389.4:c.1467G=	XP_005247446.1:p.Lys489=
XM_011512738.2:c.1558+5G=	XP_011511040.1:n.1558+5G=
XM_011512739.2:c.1026G=	XP_011511041.1:p.Lys342=
NM_001199799.2:c.1563G= MANE Select	NP_001186728.1:p.Lys521=
NM_001199800.2:c.1296G=	NP_001186729.1:p.Lys432=
NM_175924.4:c.1431G=	NP_787120.1:p.Lys477=