Canonical Allele Identifier: CA354143188

Gene: ILDR1

Linked Data

• MyVariant Identifiers: chr3:g.121712334A>T (hg19) ; chr3:g.121993487A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993487A>T , CM000665.2:g.121993487A>T	GRCh38
NC_000003.11:g.121712334A>T , CM000665.1:g.121712334A>T	GRCh37
NC_000003.10:g.123195024A>T	NCBI36
NG_031870.1:g.33794T>A
NG_031870.2:g.72068T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000344209.10:c.1262T>A MANE Select	ENSP00000345667.5:p.Leu421Gln
ENST00000460554.2:n.1212T>A
ENST00000642615.1:c.*445T>A	ENSP00000495499.1:n.*445T>A
ENST00000273691.7:c.1130T>A	ENSP00000273691.3:p.Leu377Gln
ENST00000344209.9:c.1262T>A	ENSP00000345667.5:p.Leu421Gln
ENST00000393631.5:c.995T>A	ENSP00000377251.1:p.Leu332Gln
ENST00000460554.1:n.1364T>A
ENST00000462014.1:c.1166T>A	ENSP00000419414.1:p.Leu389Gln
NM_001199799.1:c.1262T>A	NP_001186728.1:p.Leu421Gln
NM_001199800.1:c.995T>A	NP_001186729.1:p.Leu332Gln
NM_175924.3:c.1130T>A	NP_787120.1:p.Leu377Gln
XM_005247389.3:c.1166T>A	XP_005247446.1:p.Leu389Gln
XM_011512738.1:c.1262T>A	XP_011511040.1:p.Leu421Gln
XM_011512739.1:c.725T>A	XP_011511041.1:p.Leu242Gln
XM_005247389.4:c.1166T>A	XP_005247446.1:p.Leu389Gln
XM_011512738.2:c.1262T>A	XP_011511040.1:p.Leu421Gln
XM_011512739.2:c.725T>A	XP_011511041.1:p.Leu242Gln
NM_001199799.2:c.1262T>A MANE Select	NP_001186728.1:p.Leu421Gln
NM_001199800.2:c.995T>A	NP_001186729.1:p.Leu332Gln
NM_175924.4:c.1130T>A	NP_787120.1:p.Leu377Gln