Canonical Allele Identifier: CA404089847

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2636939
• ClinVar RCV Id: RCV003410865
• COSMIC: COSM1256395
• MyVariant Identifiers: chr19:g.11227652C>A (hg19) ; chr19:g.11116976C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116976C>A , CM000681.2:g.11116976C>A	GRCh38
NC_000019.9:g.11227652C>A , CM000681.1:g.11227652C>A	GRCh37
NC_000019.8:g.11088652C>A	NCBI36
NG_009060.1:g.32596C>A , LRG_274:g.32596C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2081C>A	ENSP00000252444.6:p.Pro694His
ENST00000559340.2:c.1705+764C>A	ENSP00000453696.2:n.1705+764C>A
ENST00000560467.2:c.1703C>A	ENSP00000453513.2:p.Pro568His
ENST00000558518.6:c.1823C>A MANE Select	ENSP00000454071.1:p.Pro608His
ENST00000252444.9:c.2077C>A
ENST00000455727.6:c.1319C>A	ENSP00000397829.2:p.Pro440His
ENST00000535915.5:c.1700C>A	ENSP00000440520.1:p.Pro567His
ENST00000545707.5:c.1442C>A	ENSP00000437639.1:p.Pro481His
ENST00000557933.5:c.1823C>A	ENSP00000453557.1:p.Pro608His
ENST00000558013.5:c.1823C>A	ENSP00000453346.1:p.Pro608His
ENST00000558518.5:c.1823C>A	ENSP00000454071.1:p.Pro608His
ENST00000559340.1:c.426+764C>A
NM_000527.4:c.1823C>A , LRG_274t1:c.1823C>A	NP_000518.1:p.Pro608His
NM_001195798.1:c.1823C>A	NP_001182727.1:p.Pro608His
NM_001195799.1:c.1700C>A	NP_001182728.1:p.Pro567His
NM_001195800.1:c.1319C>A	NP_001182729.1:p.Pro440His
NM_001195803.1:c.1442C>A	NP_001182732.1:p.Pro481His
XM_011528010.1:c.1823C>A	XP_011526312.1:p.Pro608His
XM_011528011.1:c.1442C>A	XP_011526313.1:p.Pro481His
XR_244074.2:n.1855+764C>A
XM_011528010.2:c.1823C>A	XP_011526312.1:p.Pro608His
XR_001753685.2:n.1940C>A
XR_001753686.2:n.1822+764C>A
NM_000527.5:c.1823C>A MANE Select	NP_000518.1:p.Pro608His
NM_001195798.2:c.1823C>A	NP_001182727.1:p.Pro608His
NM_001195799.2:c.1700C>A	NP_001182728.1:p.Pro567His
NM_001195800.2:c.1319C>A	NP_001182729.1:p.Pro440His
NM_001195803.2:c.1442C>A	NP_001182732.1:p.Pro481His