Canonical Allele Identifier: CA1397750897

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993581A= , CM000665.2:g.121993581A=	GRCh38
NC_000003.11:g.121712428A= , CM000665.1:g.121712428A=	GRCh37
NC_000003.10:g.123195118A=	NCBI36
NG_031870.1:g.33700T=
NG_031870.2:g.71974T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1168T= MANE Select	ENSP00000345667.5:p.Leu390=
ENST00000460554.2:n.1118T=
ENST00000642615.1:c.*351T=	ENSP00000495499.1:n.*351T=
ENST00000273691.7:c.1036T=	ENSP00000273691.3:p.Leu346=
ENST00000344209.9:c.1168T=	ENSP00000345667.5:p.Leu390=
ENST00000393631.5:c.901T=	ENSP00000377251.1:p.Leu301=
ENST00000460554.1:n.1270T=
ENST00000462014.1:c.1072T=	ENSP00000419414.1:p.Leu358=
NM_001199799.1:c.1168T=	NP_001186728.1:p.Leu390=
NM_001199800.1:c.901T=	NP_001186729.1:p.Leu301=
NM_175924.3:c.1036T=	NP_787120.1:p.Leu346=
XM_005247389.3:c.1072T=	XP_005247446.1:p.Leu358=
XM_011512738.1:c.1168T=	XP_011511040.1:p.Leu390=
XM_011512739.1:c.631T=	XP_011511041.1:p.Leu211=
XM_005247389.4:c.1072T=	XP_005247446.1:p.Leu358=
XM_011512738.2:c.1168T=	XP_011511040.1:p.Leu390=
XM_011512739.2:c.631T=	XP_011511041.1:p.Leu211=
NM_001199799.2:c.1168T= MANE Select	NP_001186728.1:p.Leu390=
NM_001199800.2:c.901T=	NP_001186729.1:p.Leu301=
NM_175924.4:c.1036T=	NP_787120.1:p.Leu346=