Canonical Allele Identifier: CA404079073

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1057254
• ClinVar RCV Id: RCV001366200 ; RCV004006797
• dbSNP Id: rs2077282480
• MyVariant Identifiers: chr19:g.11216261G>C (hg19) ; chr19:g.11105585G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105585G>C , CM000681.2:g.11105585G>C	GRCh38
NC_000019.9:g.11216261G>C , CM000681.1:g.11216261G>C	GRCh37
NC_000019.8:g.11077261G>C	NCBI36
NG_009060.1:g.21205G>C , LRG_274:g.21205G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.937G>C	ENSP00000252444.6:p.Asp313His
ENST00000559340.2:c.679G>C	ENSP00000453696.2:p.Asp227His
ENST00000560467.2:c.679G>C	ENSP00000453513.2:p.Asp227His
ENST00000558518.6:c.679G>C MANE Select	ENSP00000454071.1:p.Asp227His
ENST00000252444.9:c.933G>C
ENST00000455727.6:c.314-1807G>C	ENSP00000397829.2:n.314-1807G>C
ENST00000535915.5:c.556G>C	ENSP00000440520.1:p.Asp186His
ENST00000545707.5:c.314-980G>C	ENSP00000437639.1:n.314-980G>C
ENST00000557933.5:c.679G>C	ENSP00000453557.1:p.Asp227His
ENST00000558013.5:c.679G>C	ENSP00000453346.1:p.Asp227His
ENST00000558518.5:c.679G>C	ENSP00000454071.1:p.Asp227His
ENST00000560467.1:c.279G>C
NM_000527.4:c.679G>C , LRG_274t1:c.679G>C	NP_000518.1:p.Asp227His
NM_001195798.1:c.679G>C	NP_001182727.1:p.Asp227His
NM_001195799.1:c.556G>C	NP_001182728.1:p.Asp186His
NM_001195800.1:c.314-1807G>C	NP_001182729.1:n.314-1807G>C
NM_001195803.1:c.314-980G>C	NP_001182732.1:n.314-980G>C
XM_011528010.1:c.679G>C	XP_011526312.1:p.Asp227His
XM_011528011.1:c.314-980G>C	XP_011526313.1:n.314-980G>C
XR_244074.2:n.829G>C
XM_011528010.2:c.679G>C	XP_011526312.1:p.Asp227His
XR_001753685.2:n.796G>C
XR_001753686.2:n.796G>C
NM_000527.5:c.679G>C MANE Select	NP_000518.1:p.Asp227His
NM_001195798.2:c.679G>C	NP_001182727.1:p.Asp227His
NM_001195799.2:c.556G>C	NP_001182728.1:p.Asp186His
NM_001195800.2:c.314-1807G>C	NP_001182729.1:n.314-1807G>C
NM_001195803.2:c.314-980G>C	NP_001182732.1:n.314-980G>C