Canonical Allele Identifier: CA435423891

Gene: ILDR1

Linked Data

• COSMIC: COSM3914694 ; COSM3914695 ; COSM3914696
• MyVariant Identifiers: chr3:g.121712534G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993687G>A , CM000665.2:g.121993687G>A	GRCh38
NC_000003.11:g.121712534G>A , CM000665.1:g.121712534G>A	GRCh37
NC_000003.10:g.123195224G>A	NCBI36
NG_031870.1:g.33594C>T
NG_031870.2:g.71868C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1062C>T MANE Select	ENSP00000345667.5:p.Leu354=
ENST00000460554.2:n.1012C>T
ENST00000642615.1:c.*245C>T	ENSP00000495499.1:n.*245C>T
ENST00000273691.7:c.930C>T	ENSP00000273691.3:p.Leu310=
ENST00000344209.9:c.1062C>T	ENSP00000345667.5:p.Leu354=
ENST00000393631.5:c.795C>T	ENSP00000377251.1:p.Leu265=
ENST00000460554.1:n.1164C>T
ENST00000462014.1:c.966C>T	ENSP00000419414.1:p.Leu322=
NM_001199799.1:c.1062C>T	NP_001186728.1:p.Leu354=
NM_001199800.1:c.795C>T	NP_001186729.1:p.Leu265=
NM_175924.3:c.930C>T	NP_787120.1:p.Leu310=
XM_005247389.3:c.966C>T	XP_005247446.1:p.Leu322=
XM_011512738.1:c.1062C>T	XP_011511040.1:p.Leu354=
XM_011512739.1:c.525C>T	XP_011511041.1:p.Leu175=
XM_005247389.4:c.966C>T	XP_005247446.1:p.Leu322=
XM_011512738.2:c.1062C>T	XP_011511040.1:p.Leu354=
XM_011512739.2:c.525C>T	XP_011511041.1:p.Leu175=
NM_001199799.2:c.1062C>T MANE Select	NP_001186728.1:p.Leu354=
NM_001199800.2:c.795C>T	NP_001186729.1:p.Leu265=
NM_175924.4:c.930C>T	NP_787120.1:p.Leu310=