Canonical Allele Identifier: CA354142092

Gene: ILDR1

Linked Data

• MyVariant Identifiers: chr3:g.121712084C>A (hg19) ; chr3:g.121993237C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993237C>A , CM000665.2:g.121993237C>A	GRCh38
NC_000003.11:g.121712084C>A , CM000665.1:g.121712084C>A	GRCh37
NC_000003.10:g.123194774C>A	NCBI36
NG_031870.1:g.34044G>T
NG_031870.2:g.72318G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1512G>T MANE Select	ENSP00000345667.5:p.Trp504Cys
ENST00000460554.2:n.1462G>T
ENST00000642615.1:c.*695G>T	ENSP00000495499.1:n.*695G>T
ENST00000273691.7:c.1380G>T	ENSP00000273691.3:p.Trp460Cys
ENST00000344209.9:c.1512G>T	ENSP00000345667.5:p.Trp504Cys
ENST00000393631.5:c.1245G>T	ENSP00000377251.1:p.Trp415Cys
ENST00000460554.1:n.1614G>T
ENST00000462014.1:c.1416G>T	ENSP00000419414.1:p.Trp472Cys
NM_001199799.1:c.1512G>T	NP_001186728.1:p.Trp504Cys
NM_001199800.1:c.1245G>T	NP_001186729.1:p.Trp415Cys
NM_175924.3:c.1380G>T	NP_787120.1:p.Trp460Cys
XM_005247389.3:c.1416G>T	XP_005247446.1:p.Trp472Cys
XM_011512738.1:c.1512G>T	XP_011511040.1:p.Trp504Cys
XM_011512739.1:c.975G>T	XP_011511041.1:p.Trp325Cys
XM_005247389.4:c.1416G>T	XP_005247446.1:p.Trp472Cys
XM_011512738.2:c.1512G>T	XP_011511040.1:p.Trp504Cys
XM_011512739.2:c.975G>T	XP_011511041.1:p.Trp325Cys
NM_001199799.2:c.1512G>T MANE Select	NP_001186728.1:p.Trp504Cys
NM_001199800.2:c.1245G>T	NP_001186729.1:p.Trp415Cys
NM_175924.4:c.1380G>T	NP_787120.1:p.Trp460Cys