Canonical Allele Identifier: CA2568623

Gene: ILDR1

Linked Data

• dbSNP Id: rs747580467
• ExAC: 3:121712023 T / C
• gnomAD v2: 3-121712023-T-C
• gnomAD v4: 3-121993176-T-C
• COSMIC: COSM5109518
• MyVariant Identifiers: chr3:g.121712023T>C (hg19) ; chr3:g.121993176T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993176T>C , CM000665.2:g.121993176T>C	GRCh38
NC_000003.11:g.121712023T>C , CM000665.1:g.121712023T>C	GRCh37
NC_000003.10:g.123194713T>C	NCBI36
NG_031870.1:g.34105A>G
NG_031870.2:g.72379A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1573A>G MANE Select	ENSP00000345667.5:p.Lys525Glu
ENST00000460554.2:n.1523A>G
ENST00000642615.1:c.*756A>G	ENSP00000495499.1:n.*756A>G
ENST00000273691.7:c.1441A>G	ENSP00000273691.3:p.Lys481Glu
ENST00000344209.9:c.1573A>G	ENSP00000345667.5:p.Lys525Glu
ENST00000393631.5:c.1306A>G	ENSP00000377251.1:p.Lys436Glu
ENST00000460554.1:n.1675A>G
ENST00000462014.1:c.1477A>G	ENSP00000419414.1:p.Lys493Glu
NM_001199799.1:c.1573A>G	NP_001186728.1:p.Lys525Glu
NM_001199800.1:c.1306A>G	NP_001186729.1:p.Lys436Glu
NM_175924.3:c.1441A>G	NP_787120.1:p.Lys481Glu
XM_005247389.3:c.1477A>G	XP_005247446.1:p.Lys493Glu
XM_011512738.1:c.1558+15A>G	XP_011511040.1:n.1558+15A>G
XM_011512739.1:c.1036A>G	XP_011511041.1:p.Lys346Glu
XM_005247389.4:c.1477A>G	XP_005247446.1:p.Lys493Glu
XM_011512738.2:c.1558+15A>G	XP_011511040.1:n.1558+15A>G
XM_011512739.2:c.1036A>G	XP_011511041.1:p.Lys346Glu
NM_001199799.2:c.1573A>G MANE Select	NP_001186728.1:p.Lys525Glu
NM_001199800.2:c.1306A>G	NP_001186729.1:p.Lys436Glu
NM_175924.4:c.1441A>G	NP_787120.1:p.Lys481Glu