Canonical Allele Identifier: CA435423857

Gene: ILDR1

Linked Data

• COSMIC: COSM6192750 ; COSM6192751 ; COSM6192752
• MyVariant Identifiers: chr3:g.121712518T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993671T>G , CM000665.2:g.121993671T>G	GRCh38
NC_000003.11:g.121712518T>G , CM000665.1:g.121712518T>G	GRCh37
NC_000003.10:g.123195208T>G	NCBI36
NG_031870.1:g.33610A>C
NG_031870.2:g.71884A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1078A>C MANE Select	ENSP00000345667.5:p.Arg360=
ENST00000460554.2:n.1028A>C
ENST00000642615.1:c.*261A>C	ENSP00000495499.1:n.*261A>C
ENST00000273691.7:c.946A>C	ENSP00000273691.3:p.Arg316=
ENST00000344209.9:c.1078A>C	ENSP00000345667.5:p.Arg360=
ENST00000393631.5:c.811A>C	ENSP00000377251.1:p.Arg271=
ENST00000460554.1:n.1180A>C
ENST00000462014.1:c.982A>C	ENSP00000419414.1:p.Arg328=
NM_001199799.1:c.1078A>C	NP_001186728.1:p.Arg360=
NM_001199800.1:c.811A>C	NP_001186729.1:p.Arg271=
NM_175924.3:c.946A>C	NP_787120.1:p.Arg316=
XM_005247389.3:c.982A>C	XP_005247446.1:p.Arg328=
XM_011512738.1:c.1078A>C	XP_011511040.1:p.Arg360=
XM_011512739.1:c.541A>C	XP_011511041.1:p.Arg181=
XM_005247389.4:c.982A>C	XP_005247446.1:p.Arg328=
XM_011512738.2:c.1078A>C	XP_011511040.1:p.Arg360=
XM_011512739.2:c.541A>C	XP_011511041.1:p.Arg181=
NM_001199799.2:c.1078A>C MANE Select	NP_001186728.1:p.Arg360=
NM_001199800.2:c.811A>C	NP_001186729.1:p.Arg271=
NM_175924.4:c.946A>C	NP_787120.1:p.Arg316=