Canonical Allele Identifier: CA354141745

Gene: ILDR1

Linked Data

• MyVariant Identifiers: chr3:g.121712005T>A (hg19) ; chr3:g.121993158T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993158T>A , CM000665.2:g.121993158T>A	GRCh38
NC_000003.11:g.121712005T>A , CM000665.1:g.121712005T>A	GRCh37
NC_000003.10:g.123194695T>A	NCBI36
NG_031870.1:g.34123A>T
NG_031870.2:g.72397A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1591A>T MANE Select	ENSP00000345667.5:p.Arg531Trp
ENST00000460554.2:n.1541A>T
ENST00000642615.1:c.*774A>T	ENSP00000495499.1:n.*774A>T
ENST00000273691.7:c.1459A>T	ENSP00000273691.3:p.Arg487Trp
ENST00000344209.9:c.1591A>T	ENSP00000345667.5:p.Arg531Trp
ENST00000393631.5:c.1324A>T	ENSP00000377251.1:p.Arg442Trp
ENST00000460554.1:n.1693A>T
ENST00000462014.1:c.1495A>T	ENSP00000419414.1:p.Arg499Trp
NM_001199799.1:c.1591A>T	NP_001186728.1:p.Arg531Trp
NM_001199800.1:c.1324A>T	NP_001186729.1:p.Arg442Trp
NM_175924.3:c.1459A>T	NP_787120.1:p.Arg487Trp
XM_005247389.3:c.1495A>T	XP_005247446.1:p.Arg499Trp
XM_011512738.1:c.1558+33A>T	XP_011511040.1:n.1558+33A>T
XM_011512739.1:c.1054A>T	XP_011511041.1:p.Arg352Trp
XM_005247389.4:c.1495A>T	XP_005247446.1:p.Arg499Trp
XM_011512738.2:c.1558+33A>T	XP_011511040.1:n.1558+33A>T
XM_011512739.2:c.1054A>T	XP_011511041.1:p.Arg352Trp
NM_001199799.2:c.1591A>T MANE Select	NP_001186728.1:p.Arg531Trp
NM_001199800.2:c.1324A>T	NP_001186729.1:p.Arg442Trp
NM_175924.4:c.1459A>T	NP_787120.1:p.Arg487Trp