Canonical Allele Identifier: CA354143574

Gene: ILDR1

Linked Data

• dbSNP Id: rs2071389556
• MyVariant Identifiers: chr3:g.121712442G>C (hg19) ; chr3:g.121993595G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993595G>C , CM000665.2:g.121993595G>C	GRCh38
NC_000003.11:g.121712442G>C , CM000665.1:g.121712442G>C	GRCh37
NC_000003.10:g.123195132G>C	NCBI36
NG_031870.1:g.33686C>G
NG_031870.2:g.71960C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000344209.10:c.1154C>G MANE Select	ENSP00000345667.5:p.Pro385Arg
ENST00000460554.2:n.1104C>G
ENST00000642615.1:c.*337C>G	ENSP00000495499.1:n.*337C>G
ENST00000273691.7:c.1022C>G	ENSP00000273691.3:p.Pro341Arg
ENST00000344209.9:c.1154C>G	ENSP00000345667.5:p.Pro385Arg
ENST00000393631.5:c.887C>G	ENSP00000377251.1:p.Pro296Arg
ENST00000460554.1:n.1256C>G
ENST00000462014.1:c.1058C>G	ENSP00000419414.1:p.Pro353Arg
NM_001199799.1:c.1154C>G	NP_001186728.1:p.Pro385Arg
NM_001199800.1:c.887C>G	NP_001186729.1:p.Pro296Arg
NM_175924.3:c.1022C>G	NP_787120.1:p.Pro341Arg
XM_005247389.3:c.1058C>G	XP_005247446.1:p.Pro353Arg
XM_011512738.1:c.1154C>G	XP_011511040.1:p.Pro385Arg
XM_011512739.1:c.617C>G	XP_011511041.1:p.Pro206Arg
XM_005247389.4:c.1058C>G	XP_005247446.1:p.Pro353Arg
XM_011512738.2:c.1154C>G	XP_011511040.1:p.Pro385Arg
XM_011512739.2:c.617C>G	XP_011511041.1:p.Pro206Arg
NM_001199799.2:c.1154C>G MANE Select	NP_001186728.1:p.Pro385Arg
NM_001199800.2:c.887C>G	NP_001186729.1:p.Pro296Arg
NM_175924.4:c.1022C>G	NP_787120.1:p.Pro341Arg