Canonical Allele Identifier: CA2568622

Gene: ILDR1

Linked Data

• dbSNP Id: rs778553516
• ExAC: 3:121712019 T / G
• gnomAD v2: 3-121712019-T-G
• gnomAD v3: 3-121993172-T-G
• gnomAD v4: 3-121993172-T-G
• MyVariant Identifiers: chr3:g.121712019T>G (hg19) ; chr3:g.121993172T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993172T>G , CM000665.2:g.121993172T>G	GRCh38
NC_000003.11:g.121712019T>G , CM000665.1:g.121712019T>G	GRCh37
NC_000003.10:g.123194709T>G	NCBI36
NG_031870.1:g.34109A>C
NG_031870.2:g.72383A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1577A>C MANE Select	ENSP00000345667.5:p.Lys526Thr
ENST00000460554.2:n.1527A>C
ENST00000642615.1:c.*760A>C	ENSP00000495499.1:n.*760A>C
ENST00000273691.7:c.1445A>C	ENSP00000273691.3:p.Lys482Thr
ENST00000344209.9:c.1577A>C	ENSP00000345667.5:p.Lys526Thr
ENST00000393631.5:c.1310A>C	ENSP00000377251.1:p.Lys437Thr
ENST00000460554.1:n.1679A>C
ENST00000462014.1:c.1481A>C	ENSP00000419414.1:p.Lys494Thr
NM_001199799.1:c.1577A>C	NP_001186728.1:p.Lys526Thr
NM_001199800.1:c.1310A>C	NP_001186729.1:p.Lys437Thr
NM_175924.3:c.1445A>C	NP_787120.1:p.Lys482Thr
XM_005247389.3:c.1481A>C	XP_005247446.1:p.Lys494Thr
XM_011512738.1:c.1558+19A>C	XP_011511040.1:n.1558+19A>C
XM_011512739.1:c.1040A>C	XP_011511041.1:p.Lys347Thr
XM_005247389.4:c.1481A>C	XP_005247446.1:p.Lys494Thr
XM_011512738.2:c.1558+19A>C	XP_011511040.1:n.1558+19A>C
XM_011512739.2:c.1040A>C	XP_011511041.1:p.Lys347Thr
NM_001199799.2:c.1577A>C MANE Select	NP_001186728.1:p.Lys526Thr
NM_001199800.2:c.1310A>C	NP_001186729.1:p.Lys437Thr
NM_175924.4:c.1445A>C	NP_787120.1:p.Lys482Thr