Canonical Allele Identifier: CA2568614

Gene: ILDR1

Linked Data

• ClinVar Variation Id: 1356019
• ClinVar RCV Id: RCV001876634
• dbSNP Id: rs751575285
• ExAC: 3:121711998 G / A
• gnomAD v2: 3-121711998-G-A
• gnomAD v4: 3-121993151-G-A
• MyVariant Identifiers: chr3:g.121711998G>A (hg19) ; chr3:g.121993151G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993151G>A , CM000665.2:g.121993151G>A	GRCh38
NC_000003.11:g.121711998G>A , CM000665.1:g.121711998G>A	GRCh37
NC_000003.10:g.123194688G>A	NCBI36
NG_031870.1:g.34130C>T
NG_031870.2:g.72404C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1598C>T MANE Select	ENSP00000345667.5:p.Ser533Leu
ENST00000460554.2:n.1548C>T
ENST00000642615.1:c.*781C>T	ENSP00000495499.1:n.*781C>T
ENST00000273691.7:c.1466C>T	ENSP00000273691.3:p.Ser489Leu
ENST00000344209.9:c.1598C>T	ENSP00000345667.5:p.Ser533Leu
ENST00000393631.5:c.1331C>T	ENSP00000377251.1:p.Ser444Leu
ENST00000460554.1:n.1700C>T
ENST00000462014.1:c.1502C>T	ENSP00000419414.1:p.Ser501Leu
NM_001199799.1:c.1598C>T	NP_001186728.1:p.Ser533Leu
NM_001199800.1:c.1331C>T	NP_001186729.1:p.Ser444Leu
NM_175924.3:c.1466C>T	NP_787120.1:p.Ser489Leu
XM_005247389.3:c.1502C>T	XP_005247446.1:p.Ser501Leu
XM_011512738.1:c.1558+40C>T	XP_011511040.1:n.1558+40C>T
XM_011512739.1:c.1061C>T	XP_011511041.1:p.Ser354Leu
XM_005247389.4:c.1502C>T	XP_005247446.1:p.Ser501Leu
XM_011512738.2:c.1558+40C>T	XP_011511040.1:n.1558+40C>T
XM_011512739.2:c.1061C>T	XP_011511041.1:p.Ser354Leu
NM_001199799.2:c.1598C>T MANE Select	NP_001186728.1:p.Ser533Leu
NM_001199800.2:c.1331C>T	NP_001186729.1:p.Ser444Leu
NM_175924.4:c.1466C>T	NP_787120.1:p.Ser489Leu