Canonical Allele Identifier: CA354143455

Gene: ILDR1

Linked Data

• MyVariant Identifiers: chr3:g.121712411C>A (hg19) ; chr3:g.121993564C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993564C>A , CM000665.2:g.121993564C>A	GRCh38
NC_000003.11:g.121712411C>A , CM000665.1:g.121712411C>A	GRCh37
NC_000003.10:g.123195101C>A	NCBI36
NG_031870.1:g.33717G>T
NG_031870.2:g.71991G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1185G>T MANE Select	ENSP00000345667.5:p.Leu395Phe
ENST00000460554.2:n.1135G>T
ENST00000642615.1:c.*368G>T	ENSP00000495499.1:n.*368G>T
ENST00000273691.7:c.1053G>T	ENSP00000273691.3:p.Leu351Phe
ENST00000344209.9:c.1185G>T	ENSP00000345667.5:p.Leu395Phe
ENST00000393631.5:c.918G>T	ENSP00000377251.1:p.Leu306Phe
ENST00000460554.1:n.1287G>T
ENST00000462014.1:c.1089G>T	ENSP00000419414.1:p.Leu363Phe
NM_001199799.1:c.1185G>T	NP_001186728.1:p.Leu395Phe
NM_001199800.1:c.918G>T	NP_001186729.1:p.Leu306Phe
NM_175924.3:c.1053G>T	NP_787120.1:p.Leu351Phe
XM_005247389.3:c.1089G>T	XP_005247446.1:p.Leu363Phe
XM_011512738.1:c.1185G>T	XP_011511040.1:p.Leu395Phe
XM_011512739.1:c.648G>T	XP_011511041.1:p.Leu216Phe
XM_005247389.4:c.1089G>T	XP_005247446.1:p.Leu363Phe
XM_011512738.2:c.1185G>T	XP_011511040.1:p.Leu395Phe
XM_011512739.2:c.648G>T	XP_011511041.1:p.Leu216Phe
NM_001199799.2:c.1185G>T MANE Select	NP_001186728.1:p.Leu395Phe
NM_001199800.2:c.918G>T	NP_001186729.1:p.Leu306Phe
NM_175924.4:c.1053G>T	NP_787120.1:p.Leu351Phe