Canonical Allele Identifier: CA354141874

Gene: ILDR1

Linked Data

• dbSNP Id: rs2071377036
• MyVariant Identifiers: chr3:g.121712040G>C (hg19) ; chr3:g.121993193G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993193G>C , CM000665.2:g.121993193G>C	GRCh38
NC_000003.11:g.121712040G>C , CM000665.1:g.121712040G>C	GRCh37
NC_000003.10:g.123194730G>C	NCBI36
NG_031870.1:g.34088C>G
NG_031870.2:g.72362C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1556C>G MANE Select	ENSP00000345667.5:p.Pro519Arg
ENST00000460554.2:n.1506C>G
ENST00000642615.1:c.*739C>G	ENSP00000495499.1:n.*739C>G
ENST00000273691.7:c.1424C>G	ENSP00000273691.3:p.Pro475Arg
ENST00000344209.9:c.1556C>G	ENSP00000345667.5:p.Pro519Arg
ENST00000393631.5:c.1289C>G	ENSP00000377251.1:p.Pro430Arg
ENST00000460554.1:n.1658C>G
ENST00000462014.1:c.1460C>G	ENSP00000419414.1:p.Pro487Arg
NM_001199799.1:c.1556C>G	NP_001186728.1:p.Pro519Arg
NM_001199800.1:c.1289C>G	NP_001186729.1:p.Pro430Arg
NM_175924.3:c.1424C>G	NP_787120.1:p.Pro475Arg
XM_005247389.3:c.1460C>G	XP_005247446.1:p.Pro487Arg
XM_011512738.1:c.1556C>G	XP_011511040.1:p.Pro519Arg
XM_011512739.1:c.1019C>G	XP_011511041.1:p.Pro340Arg
XM_005247389.4:c.1460C>G	XP_005247446.1:p.Pro487Arg
XM_011512738.2:c.1556C>G	XP_011511040.1:p.Pro519Arg
XM_011512739.2:c.1019C>G	XP_011511041.1:p.Pro340Arg
NM_001199799.2:c.1556C>G MANE Select	NP_001186728.1:p.Pro519Arg
NM_001199800.2:c.1289C>G	NP_001186729.1:p.Pro430Arg
NM_175924.4:c.1424C>G	NP_787120.1:p.Pro475Arg