Canonical Allele Identifier: CA354143215

Gene: ILDR1

Linked Data

• COSMIC: COSM4900474 ; COSM4900475 ; COSM4900476
• MyVariant Identifiers: chr3:g.121712341C>T (hg19) ; chr3:g.121993494C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993494C>T , CM000665.2:g.121993494C>T	GRCh38
NC_000003.11:g.121712341C>T , CM000665.1:g.121712341C>T	GRCh37
NC_000003.10:g.123195031C>T	NCBI36
NG_031870.1:g.33787G>A
NG_031870.2:g.72061G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000344209.10:c.1255G>A MANE Select	ENSP00000345667.5:p.Asp419Asn
ENST00000460554.2:n.1205G>A
ENST00000642615.1:c.*438G>A	ENSP00000495499.1:n.*438G>A
ENST00000273691.7:c.1123G>A	ENSP00000273691.3:p.Asp375Asn
ENST00000344209.9:c.1255G>A	ENSP00000345667.5:p.Asp419Asn
ENST00000393631.5:c.988G>A	ENSP00000377251.1:p.Asp330Asn
ENST00000460554.1:n.1357G>A
ENST00000462014.1:c.1159G>A	ENSP00000419414.1:p.Asp387Asn
NM_001199799.1:c.1255G>A	NP_001186728.1:p.Asp419Asn
NM_001199800.1:c.988G>A	NP_001186729.1:p.Asp330Asn
NM_175924.3:c.1123G>A	NP_787120.1:p.Asp375Asn
XM_005247389.3:c.1159G>A	XP_005247446.1:p.Asp387Asn
XM_011512738.1:c.1255G>A	XP_011511040.1:p.Asp419Asn
XM_011512739.1:c.718G>A	XP_011511041.1:p.Asp240Asn
XM_005247389.4:c.1159G>A	XP_005247446.1:p.Asp387Asn
XM_011512738.2:c.1255G>A	XP_011511040.1:p.Asp419Asn
XM_011512739.2:c.718G>A	XP_011511041.1:p.Asp240Asn
NM_001199799.2:c.1255G>A MANE Select	NP_001186728.1:p.Asp419Asn
NM_001199800.2:c.988G>A	NP_001186729.1:p.Asp330Asn
NM_175924.4:c.1123G>A	NP_787120.1:p.Asp375Asn