Canonical Allele Identifier: CA354143946

Gene: ILDR1

Linked Data

• dbSNP Id: rs1184540201
• gnomAD v2: 3-121712514-G-A
• gnomAD v4: 3-121993667-G-A
• COSMIC: COSM5897437 ; COSM5897438 ; COSM5897439
• MyVariant Identifiers: chr3:g.121712514G>A (hg19) ; chr3:g.121993667G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993667G>A , CM000665.2:g.121993667G>A	GRCh38
NC_000003.11:g.121712514G>A , CM000665.1:g.121712514G>A	GRCh37
NC_000003.10:g.123195204G>A	NCBI36
NG_031870.1:g.33614C>T
NG_031870.2:g.71888C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1082C>T MANE Select	ENSP00000345667.5:p.Pro361Leu
ENST00000460554.2:n.1032C>T
ENST00000642615.1:c.*265C>T	ENSP00000495499.1:n.*265C>T
ENST00000273691.7:c.950C>T	ENSP00000273691.3:p.Pro317Leu
ENST00000344209.9:c.1082C>T	ENSP00000345667.5:p.Pro361Leu
ENST00000393631.5:c.815C>T	ENSP00000377251.1:p.Pro272Leu
ENST00000460554.1:n.1184C>T
ENST00000462014.1:c.986C>T	ENSP00000419414.1:p.Pro329Leu
NM_001199799.1:c.1082C>T	NP_001186728.1:p.Pro361Leu
NM_001199800.1:c.815C>T	NP_001186729.1:p.Pro272Leu
NM_175924.3:c.950C>T	NP_787120.1:p.Pro317Leu
XM_005247389.3:c.986C>T	XP_005247446.1:p.Pro329Leu
XM_011512738.1:c.1082C>T	XP_011511040.1:p.Pro361Leu
XM_011512739.1:c.545C>T	XP_011511041.1:p.Pro182Leu
XM_005247389.4:c.986C>T	XP_005247446.1:p.Pro329Leu
XM_011512738.2:c.1082C>T	XP_011511040.1:p.Pro361Leu
XM_011512739.2:c.545C>T	XP_011511041.1:p.Pro182Leu
NM_001199799.2:c.1082C>T MANE Select	NP_001186728.1:p.Pro361Leu
NM_001199800.2:c.815C>T	NP_001186729.1:p.Pro272Leu
NM_175924.4:c.950C>T	NP_787120.1:p.Pro317Leu