Canonical Allele Identifier: CA10585389

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251770
• ClinVar RCV Id: RCV000237825
• dbSNP Id: rs879254855
• MyVariant Identifiers: chr19:g.11224062T>C (hg19) ; chr19:g.11113386T>C (hg38)
• PubMed: PMID:20045108

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113386T>C , CM000681.2:g.11113386T>C	GRCh38
NC_000019.9:g.11224062T>C , CM000681.1:g.11224062T>C	GRCh37
NC_000019.8:g.11085062T>C	NCBI36
NG_009060.1:g.29006T>C , LRG_274:g.29006T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1553T>C	ENSP00000252444.6:p.Leu518Pro
ENST00000559340.2:c.1295T>C	ENSP00000453696.2:p.Leu432Pro
ENST00000560467.2:c.1175T>C	ENSP00000453513.2:p.Leu392Pro
ENST00000558518.6:c.1295T>C MANE Select	ENSP00000454071.1:p.Leu432Pro
ENST00000252444.9:c.1549T>C
ENST00000455727.6:c.791T>C	ENSP00000397829.2:p.Leu264Pro
ENST00000535915.5:c.1172T>C	ENSP00000440520.1:p.Leu391Pro
ENST00000545707.5:c.914T>C	ENSP00000437639.1:p.Leu305Pro
ENST00000557933.5:c.1295T>C	ENSP00000453557.1:p.Leu432Pro
ENST00000558013.5:c.1295T>C	ENSP00000453346.1:p.Leu432Pro
ENST00000558518.5:c.1295T>C	ENSP00000454071.1:p.Leu432Pro
ENST00000559340.1:c.16T>C
ENST00000560173.1:n.294T>C
ENST00000560467.1:c.775T>C
NM_000527.4:c.1295T>C , LRG_274t1:c.1295T>C	NP_000518.1:p.Leu432Pro
NM_001195798.1:c.1295T>C	NP_001182727.1:p.Leu432Pro
NM_001195799.1:c.1172T>C	NP_001182728.1:p.Leu391Pro
NM_001195800.1:c.791T>C	NP_001182729.1:p.Leu264Pro
NM_001195803.1:c.914T>C	NP_001182732.1:p.Leu305Pro
XM_011528010.1:c.1295T>C	XP_011526312.1:p.Leu432Pro
XM_011528011.1:c.914T>C	XP_011526313.1:p.Leu305Pro
XR_244074.2:n.1445T>C
XM_011528010.2:c.1295T>C	XP_011526312.1:p.Leu432Pro
XR_001753685.2:n.1412T>C
XR_001753686.2:n.1412T>C
NM_000527.5:c.1295T>C MANE Select	NP_000518.1:p.Leu432Pro
NM_001195798.2:c.1295T>C	NP_001182727.1:p.Leu432Pro
NM_001195799.2:c.1172T>C	NP_001182728.1:p.Leu391Pro
NM_001195800.2:c.791T>C	NP_001182729.1:p.Leu264Pro
NM_001195803.2:c.914T>C	NP_001182732.1:p.Leu305Pro