Canonical Allele Identifier: CA505743206

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2069172
• ClinVar RCV Id: RCV002958770
• gnomAD v4: 19-11113378-G-C
• MyVariant Identifiers: chr19:g.11224054G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113378G>C , CM000681.2:g.11113378G>C	GRCh38
NC_000019.9:g.11224054G>C , CM000681.1:g.11224054G>C	GRCh37
NC_000019.8:g.11085054G>C	NCBI36
NG_009060.1:g.28998G>C , LRG_274:g.28998G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1545G>C	ENSP00000252444.6:p.Val515=
ENST00000559340.2:c.1287G>C	ENSP00000453696.2:p.Val429=
ENST00000560467.2:c.1167G>C	ENSP00000453513.2:p.Val389=
ENST00000558518.6:c.1287G>C MANE Select	ENSP00000454071.1:p.Val429=
ENST00000252444.9:c.1541G>C
ENST00000455727.6:c.783G>C	ENSP00000397829.2:p.Val261=
ENST00000535915.5:c.1164G>C	ENSP00000440520.1:p.Val388=
ENST00000545707.5:c.906G>C	ENSP00000437639.1:p.Val302=
ENST00000557933.5:c.1287G>C	ENSP00000453557.1:p.Val429=
ENST00000558013.5:c.1287G>C	ENSP00000453346.1:p.Val429=
ENST00000558518.5:c.1287G>C	ENSP00000454071.1:p.Val429=
ENST00000559340.1:c.8G>C
ENST00000560173.1:n.286G>C
ENST00000560467.1:c.767G>C
NM_000527.4:c.1287G>C , LRG_274t1:c.1287G>C	NP_000518.1:p.Val429=
NM_001195798.1:c.1287G>C	NP_001182727.1:p.Val429=
NM_001195799.1:c.1164G>C	NP_001182728.1:p.Val388=
NM_001195800.1:c.783G>C	NP_001182729.1:p.Val261=
NM_001195803.1:c.906G>C	NP_001182732.1:p.Val302=
XM_011528010.1:c.1287G>C	XP_011526312.1:p.Val429=
XM_011528011.1:c.906G>C	XP_011526313.1:p.Val302=
XR_244074.2:n.1437G>C
XM_011528010.2:c.1287G>C	XP_011526312.1:p.Val429=
XR_001753685.2:n.1404G>C
XR_001753686.2:n.1404G>C
NM_000527.5:c.1287G>C MANE Select	NP_000518.1:p.Val429=
NM_001195798.2:c.1287G>C	NP_001182727.1:p.Val429=
NM_001195799.2:c.1164G>C	NP_001182728.1:p.Val388=
NM_001195800.2:c.783G>C	NP_001182729.1:p.Val261=
NM_001195803.2:c.906G>C	NP_001182732.1:p.Val302=