Canonical Allele Identifier: CA404089674

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2501086
• ClinVar RCV Id: RCV003226683
• MyVariant Identifiers: chr19:g.11227550G>C (hg19) ; chr19:g.11116874G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116874G>C , CM000681.2:g.11116874G>C	GRCh38
NC_000019.9:g.11227550G>C , CM000681.1:g.11227550G>C	GRCh37
NC_000019.8:g.11088550G>C	NCBI36
NG_009060.1:g.32494G>C , LRG_274:g.32494G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1979G>C	ENSP00000252444.6:p.Arg660Pro
ENST00000559340.2:c.1705+662G>C	ENSP00000453696.2:n.1705+662G>C
ENST00000560467.2:c.1601G>C	ENSP00000453513.2:p.Arg534Pro
ENST00000558518.6:c.1721G>C MANE Select	ENSP00000454071.1:p.Arg574Pro
ENST00000252444.9:c.1975G>C
ENST00000455727.6:c.1217G>C	ENSP00000397829.2:p.Arg406Pro
ENST00000535915.5:c.1598G>C	ENSP00000440520.1:p.Arg533Pro
ENST00000545707.5:c.1340G>C	ENSP00000437639.1:p.Arg447Pro
ENST00000557933.5:c.1721G>C	ENSP00000453557.1:p.Arg574Pro
ENST00000558013.5:c.1721G>C	ENSP00000453346.1:p.Arg574Pro
ENST00000558518.5:c.1721G>C	ENSP00000454071.1:p.Arg574Pro
ENST00000559340.1:c.426+662G>C
NM_000527.4:c.1721G>C , LRG_274t1:c.1721G>C	NP_000518.1:p.Arg574Pro
NM_001195798.1:c.1721G>C	NP_001182727.1:p.Arg574Pro
NM_001195799.1:c.1598G>C	NP_001182728.1:p.Arg533Pro
NM_001195800.1:c.1217G>C	NP_001182729.1:p.Arg406Pro
NM_001195803.1:c.1340G>C	NP_001182732.1:p.Arg447Pro
XM_011528010.1:c.1721G>C	XP_011526312.1:p.Arg574Pro
XM_011528011.1:c.1340G>C	XP_011526313.1:p.Arg447Pro
XR_244074.2:n.1855+662G>C
XM_011528010.2:c.1721G>C	XP_011526312.1:p.Arg574Pro
XR_001753685.2:n.1838G>C
XR_001753686.2:n.1822+662G>C
NM_000527.5:c.1721G>C MANE Select	NP_000518.1:p.Arg574Pro
NM_001195798.2:c.1721G>C	NP_001182727.1:p.Arg574Pro
NM_001195799.2:c.1598G>C	NP_001182728.1:p.Arg533Pro
NM_001195800.2:c.1217G>C	NP_001182729.1:p.Arg406Pro
NM_001195803.2:c.1340G>C	NP_001182732.1:p.Arg447Pro