Canonical Allele Identifier: CA435423837

Gene: ILDR1

Linked Data

• COSMIC: COSM6096018 ; COSM6096019 ; COSM6096020
• MyVariant Identifiers: chr3:g.121712504C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993657C>A , CM000665.2:g.121993657C>A	GRCh38
NC_000003.11:g.121712504C>A , CM000665.1:g.121712504C>A	GRCh37
NC_000003.10:g.123195194C>A	NCBI36
NG_031870.1:g.33624G>T
NG_031870.2:g.71898G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1092G>T MANE Select	ENSP00000345667.5:p.Leu364=
ENST00000460554.2:n.1042G>T
ENST00000642615.1:c.*275G>T	ENSP00000495499.1:n.*275G>T
ENST00000273691.7:c.960G>T	ENSP00000273691.3:p.Leu320=
ENST00000344209.9:c.1092G>T	ENSP00000345667.5:p.Leu364=
ENST00000393631.5:c.825G>T	ENSP00000377251.1:p.Leu275=
ENST00000460554.1:n.1194G>T
ENST00000462014.1:c.996G>T	ENSP00000419414.1:p.Leu332=
NM_001199799.1:c.1092G>T	NP_001186728.1:p.Leu364=
NM_001199800.1:c.825G>T	NP_001186729.1:p.Leu275=
NM_175924.3:c.960G>T	NP_787120.1:p.Leu320=
XM_005247389.3:c.996G>T	XP_005247446.1:p.Leu332=
XM_011512738.1:c.1092G>T	XP_011511040.1:p.Leu364=
XM_011512739.1:c.555G>T	XP_011511041.1:p.Leu185=
XM_005247389.4:c.996G>T	XP_005247446.1:p.Leu332=
XM_011512738.2:c.1092G>T	XP_011511040.1:p.Leu364=
XM_011512739.2:c.555G>T	XP_011511041.1:p.Leu185=
NM_001199799.2:c.1092G>T MANE Select	NP_001186728.1:p.Leu364=
NM_001199800.2:c.825G>T	NP_001186729.1:p.Leu275=
NM_175924.4:c.960G>T	NP_787120.1:p.Leu320=