Canonical Allele Identifier: CA354143974

Gene: ILDR1

Linked Data

• MyVariant Identifiers: chr3:g.121712527T>G (hg19) ; chr3:g.121993680T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993680T>G , CM000665.2:g.121993680T>G	GRCh38
NC_000003.11:g.121712527T>G , CM000665.1:g.121712527T>G	GRCh37
NC_000003.10:g.123195217T>G	NCBI36
NG_031870.1:g.33601A>C
NG_031870.2:g.71875A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1069A>C MANE Select	ENSP00000345667.5:p.Ile357Leu
ENST00000460554.2:n.1019A>C
ENST00000642615.1:c.*252A>C	ENSP00000495499.1:n.*252A>C
ENST00000273691.7:c.937A>C	ENSP00000273691.3:p.Ile313Leu
ENST00000344209.9:c.1069A>C	ENSP00000345667.5:p.Ile357Leu
ENST00000393631.5:c.802A>C	ENSP00000377251.1:p.Ile268Leu
ENST00000460554.1:n.1171A>C
ENST00000462014.1:c.973A>C	ENSP00000419414.1:p.Ile325Leu
NM_001199799.1:c.1069A>C	NP_001186728.1:p.Ile357Leu
NM_001199800.1:c.802A>C	NP_001186729.1:p.Ile268Leu
NM_175924.3:c.937A>C	NP_787120.1:p.Ile313Leu
XM_005247389.3:c.973A>C	XP_005247446.1:p.Ile325Leu
XM_011512738.1:c.1069A>C	XP_011511040.1:p.Ile357Leu
XM_011512739.1:c.532A>C	XP_011511041.1:p.Ile178Leu
XM_005247389.4:c.973A>C	XP_005247446.1:p.Ile325Leu
XM_011512738.2:c.1069A>C	XP_011511040.1:p.Ile357Leu
XM_011512739.2:c.532A>C	XP_011511041.1:p.Ile178Leu
NM_001199799.2:c.1069A>C MANE Select	NP_001186728.1:p.Ile357Leu
NM_001199800.2:c.802A>C	NP_001186729.1:p.Ile268Leu
NM_175924.4:c.937A>C	NP_787120.1:p.Ile313Leu