Canonical Allele Identifier: CA354143839

Gene: ILDR1

Linked Data

• MyVariant Identifiers: chr3:g.121712468G>T (hg19) ; chr3:g.121993621G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993621G>T , CM000665.2:g.121993621G>T	GRCh38
NC_000003.11:g.121712468G>T , CM000665.1:g.121712468G>T	GRCh37
NC_000003.10:g.123195158G>T	NCBI36
NG_031870.1:g.33660C>A
NG_031870.2:g.71934C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1128C>A MANE Select	ENSP00000345667.5:p.Phe376Leu
ENST00000460554.2:n.1078C>A
ENST00000642615.1:c.*311C>A	ENSP00000495499.1:n.*311C>A
ENST00000273691.7:c.996C>A	ENSP00000273691.3:p.Phe332Leu
ENST00000344209.9:c.1128C>A	ENSP00000345667.5:p.Phe376Leu
ENST00000393631.5:c.861C>A	ENSP00000377251.1:p.Phe287Leu
ENST00000460554.1:n.1230C>A
ENST00000462014.1:c.1032C>A	ENSP00000419414.1:p.Phe344Leu
NM_001199799.1:c.1128C>A	NP_001186728.1:p.Phe376Leu
NM_001199800.1:c.861C>A	NP_001186729.1:p.Phe287Leu
NM_175924.3:c.996C>A	NP_787120.1:p.Phe332Leu
XM_005247389.3:c.1032C>A	XP_005247446.1:p.Phe344Leu
XM_011512738.1:c.1128C>A	XP_011511040.1:p.Phe376Leu
XM_011512739.1:c.591C>A	XP_011511041.1:p.Phe197Leu
XM_005247389.4:c.1032C>A	XP_005247446.1:p.Phe344Leu
XM_011512738.2:c.1128C>A	XP_011511040.1:p.Phe376Leu
XM_011512739.2:c.591C>A	XP_011511041.1:p.Phe197Leu
NM_001199799.2:c.1128C>A MANE Select	NP_001186728.1:p.Phe376Leu
NM_001199800.2:c.861C>A	NP_001186729.1:p.Phe287Leu
NM_175924.4:c.996C>A	NP_787120.1:p.Phe332Leu