Canonical Allele Identifier: CA354141924

Gene: ILDR1

Linked Data

• MyVariant Identifiers: chr3:g.121712052A>C (hg19) ; chr3:g.121993205A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993205A>C , CM000665.2:g.121993205A>C	GRCh38
NC_000003.11:g.121712052A>C , CM000665.1:g.121712052A>C	GRCh37
NC_000003.10:g.123194742A>C	NCBI36
NG_031870.1:g.34076T>G
NG_031870.2:g.72350T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1544T>G MANE Select	ENSP00000345667.5:p.Leu515Arg
ENST00000460554.2:n.1494T>G
ENST00000642615.1:c.*727T>G	ENSP00000495499.1:n.*727T>G
ENST00000273691.7:c.1412T>G	ENSP00000273691.3:p.Leu471Arg
ENST00000344209.9:c.1544T>G	ENSP00000345667.5:p.Leu515Arg
ENST00000393631.5:c.1277T>G	ENSP00000377251.1:p.Leu426Arg
ENST00000460554.1:n.1646T>G
ENST00000462014.1:c.1448T>G	ENSP00000419414.1:p.Leu483Arg
NM_001199799.1:c.1544T>G	NP_001186728.1:p.Leu515Arg
NM_001199800.1:c.1277T>G	NP_001186729.1:p.Leu426Arg
NM_175924.3:c.1412T>G	NP_787120.1:p.Leu471Arg
XM_005247389.3:c.1448T>G	XP_005247446.1:p.Leu483Arg
XM_011512738.1:c.1544T>G	XP_011511040.1:p.Leu515Arg
XM_011512739.1:c.1007T>G	XP_011511041.1:p.Leu336Arg
XM_005247389.4:c.1448T>G	XP_005247446.1:p.Leu483Arg
XM_011512738.2:c.1544T>G	XP_011511040.1:p.Leu515Arg
XM_011512739.2:c.1007T>G	XP_011511041.1:p.Leu336Arg
NM_001199799.2:c.1544T>G MANE Select	NP_001186728.1:p.Leu515Arg
NM_001199800.2:c.1277T>G	NP_001186729.1:p.Leu426Arg
NM_175924.4:c.1412T>G	NP_787120.1:p.Leu471Arg