Canonical Allele Identifier: CA1397750939

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993667G= , CM000665.2:g.121993667G=	GRCh38
NC_000003.11:g.121712514G= , CM000665.1:g.121712514G=	GRCh37
NC_000003.10:g.123195204G=	NCBI36
NG_031870.1:g.33614C=
NG_031870.2:g.71888C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1082C= MANE Select	ENSP00000345667.5:p.Pro361=
ENST00000460554.2:n.1032C=
ENST00000642615.1:c.*265C=	ENSP00000495499.1:n.*265C=
ENST00000273691.7:c.950C=	ENSP00000273691.3:p.Pro317=
ENST00000344209.9:c.1082C=	ENSP00000345667.5:p.Pro361=
ENST00000393631.5:c.815C=	ENSP00000377251.1:p.Pro272=
ENST00000460554.1:n.1184C=
ENST00000462014.1:c.986C=	ENSP00000419414.1:p.Pro329=
NM_001199799.1:c.1082C=	NP_001186728.1:p.Pro361=
NM_001199800.1:c.815C=	NP_001186729.1:p.Pro272=
NM_175924.3:c.950C=	NP_787120.1:p.Pro317=
XM_005247389.3:c.986C=	XP_005247446.1:p.Pro329=
XM_011512738.1:c.1082C=	XP_011511040.1:p.Pro361=
XM_011512739.1:c.545C=	XP_011511041.1:p.Pro182=
XM_005247389.4:c.986C=	XP_005247446.1:p.Pro329=
XM_011512738.2:c.1082C=	XP_011511040.1:p.Pro361=
XM_011512739.2:c.545C=	XP_011511041.1:p.Pro182=
NM_001199799.2:c.1082C= MANE Select	NP_001186728.1:p.Pro361=
NM_001199800.2:c.815C=	NP_001186729.1:p.Pro272=
NM_175924.4:c.950C=	NP_787120.1:p.Pro317=