Canonical Allele Identifier: CA632115377

Gene: LDLR

Linked Data

• ClinVar Variation Id: 440652
• ClinVar RCV Id: RCV000508837 ; RCV000586202 ; RCV001509011 ; RCV003258839
• dbSNP Id: rs781362878
• gnomAD v2: 19-11224443-G-C
• gnomAD v4: 19-11113767-G-C
• MyVariant Identifiers: chr19:g.11224443G>C (hg19) ; chr19:g.11113767G>C (hg38)
• PubMed: PMID:17964958 ; PMID:23680767

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113767G>C , CM000681.2:g.11113767G>C	GRCh38
NC_000019.9:g.11224443G>C , CM000681.1:g.11224443G>C	GRCh37
NC_000019.8:g.11085443G>C	NCBI36
NG_009060.1:g.29387G>C , LRG_274:g.29387G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1844+5G>C	ENSP00000252444.6:n.1844+5G>C
ENST00000559340.2:c.1586+5G>C	ENSP00000453696.2:n.1586+5G>C
ENST00000560467.2:c.1466+5G>C	ENSP00000453513.2:n.1466+5G>C
ENST00000558518.6:c.1586+5G>C MANE Select	ENSP00000454071.1:n.1586+5G>C
ENST00000252444.9:c.1840+5G>C
ENST00000455727.6:c.1082+5G>C	ENSP00000397829.2:n.1082+5G>C
ENST00000535915.5:c.1463+5G>C	ENSP00000440520.1:n.1463+5G>C
ENST00000545707.5:c.1205+5G>C	ENSP00000437639.1:n.1205+5G>C
ENST00000557933.5:c.1586+5G>C	ENSP00000453557.1:n.1586+5G>C
ENST00000558013.5:c.1586+5G>C	ENSP00000453346.1:n.1586+5G>C
ENST00000558518.5:c.1586+5G>C	ENSP00000454071.1:n.1586+5G>C
ENST00000559340.1:c.307+5G>C
NM_000527.4:c.1586+5G>C , LRG_274t1:c.1586+5G>C	NP_000518.1:n.1586+5G>C
NM_001195798.1:c.1586+5G>C	NP_001182727.1:n.1586+5G>C
NM_001195799.1:c.1463+5G>C	NP_001182728.1:n.1463+5G>C
NM_001195800.1:c.1082+5G>C	NP_001182729.1:n.1082+5G>C
NM_001195803.1:c.1205+5G>C	NP_001182732.1:n.1205+5G>C
XM_011528010.1:c.1586+5G>C	XP_011526312.1:n.1586+5G>C
XM_011528011.1:c.1205+5G>C	XP_011526313.1:n.1205+5G>C
XR_244074.2:n.1736+5G>C
XM_011528010.2:c.1586+5G>C	XP_011526312.1:n.1586+5G>C
XR_001753685.2:n.1703+5G>C
XR_001753686.2:n.1703+5G>C
NM_000527.5:c.1586+5G>C MANE Select	NP_000518.1:n.1586+5G>C
NM_001195798.2:c.1586+5G>C	NP_001182727.1:n.1586+5G>C
NM_001195799.2:c.1463+5G>C	NP_001182728.1:n.1463+5G>C
NM_001195800.2:c.1082+5G>C	NP_001182729.1:n.1082+5G>C
NM_001195803.2:c.1205+5G>C	NP_001182732.1:n.1205+5G>C