Canonical Allele Identifier: CA505743422

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2809404
• ClinVar RCV Id: RCV003741692
• dbSNP Id: rs1568611066
• gnomAD v4: 19-11120160-T-C
• MyVariant Identifiers: chr19:g.11230836T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120160T>C , CM000681.2:g.11120160T>C	GRCh38
NC_000019.9:g.11230836T>C , CM000681.1:g.11230836T>C	GRCh37
NC_000019.8:g.11091836T>C	NCBI36
NG_009060.1:g.35780T>C , LRG_274:g.35780T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2172T>C	ENSP00000252444.6:p.Asp724=
ENST00000559340.2:c.1774T>C	ENSP00000453696.2:p.Cys592Arg
ENST00000560467.2:c.1794T>C	ENSP00000453513.2:p.Asp598=
ENST00000558518.6:c.1914T>C MANE Select	ENSP00000454071.1:p.Asp638=
ENST00000252444.9:c.2168T>C
ENST00000455727.6:c.1410T>C	ENSP00000397829.2:p.Asp470=
ENST00000535915.5:c.1791T>C	ENSP00000440520.1:p.Asp597=
ENST00000545707.5:c.1533T>C	ENSP00000437639.1:p.Asp511=
ENST00000557933.5:c.1914T>C	ENSP00000453557.1:p.Asp638=
ENST00000558013.5:c.1914T>C	ENSP00000453346.1:p.Asp638=
ENST00000558518.5:c.1914T>C	ENSP00000454071.1:p.Asp638=
ENST00000559340.1:c.495T>C
NM_000527.4:c.1914T>C , LRG_274t1:c.1914T>C	NP_000518.1:p.Asp638=
NM_001195798.1:c.1914T>C	NP_001182727.1:p.Asp638=
NM_001195799.1:c.1791T>C	NP_001182728.1:p.Asp597=
NM_001195800.1:c.1410T>C	NP_001182729.1:p.Asp470=
NM_001195803.1:c.1533T>C	NP_001182732.1:p.Asp511=
XM_011528010.1:c.1914T>C	XP_011526312.1:p.Asp638=
XM_011528011.1:c.1533T>C	XP_011526313.1:p.Asp511=
XR_244074.2:n.1924T>C
XM_011528010.2:c.1914T>C	XP_011526312.1:p.Asp638=
XR_001753685.2:n.2031T>C
XR_001753686.2:n.1891T>C
NM_000527.5:c.1914T>C MANE Select	NP_000518.1:p.Asp638=
NM_001195798.2:c.1914T>C	NP_001182727.1:p.Asp638=
NM_001195799.2:c.1791T>C	NP_001182728.1:p.Asp597=
NM_001195800.2:c.1410T>C	NP_001182729.1:p.Asp470=
NM_001195803.2:c.1533T>C	NP_001182732.1:p.Asp511=