Canonical Allele Identifier: CA10585732

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252178
• ClinVar RCV Id: RCV000238301 ; RCV003581638
• dbSNP Id: rs875989938
• MyVariant Identifiers: chr19:g.11231088G>A (hg19) ; chr19:g.11120412G>A (hg38)
• PubMed: PMID:25846081

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120412G>A , CM000681.2:g.11120412G>A	GRCh38
NC_000019.9:g.11231088G>A , CM000681.1:g.11231088G>A	GRCh37
NC_000019.8:g.11092088G>A	NCBI36
NG_009060.1:g.36032G>A , LRG_274:g.36032G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2288G>A	ENSP00000252444.6:p.Cys763Tyr
ENST00000559340.2:c.*99G>A	ENSP00000453696.2:n.*99G>A
ENST00000560467.2:c.1910G>A	ENSP00000453513.2:p.Cys637Tyr
ENST00000558518.6:c.2030G>A MANE Select	ENSP00000454071.1:p.Cys677Tyr
ENST00000252444.9:c.2284G>A
ENST00000455727.6:c.1526G>A	ENSP00000397829.2:p.Cys509Tyr
ENST00000535915.5:c.1907G>A	ENSP00000440520.1:p.Cys636Tyr
ENST00000545707.5:c.1606+179G>A	ENSP00000437639.1:n.1606+179G>A
ENST00000557933.5:c.2030G>A	ENSP00000453557.1:p.Cys677Tyr
ENST00000558013.5:c.2030G>A	ENSP00000453346.1:p.Cys677Tyr
ENST00000558518.5:c.2030G>A	ENSP00000454071.1:p.Cys677Tyr
NM_000527.4:c.2030G>A , LRG_274t1:c.2030G>A	NP_000518.1:p.Cys677Tyr
NM_001195798.1:c.2030G>A	NP_001182727.1:p.Cys677Tyr
NM_001195799.1:c.1907G>A	NP_001182728.1:p.Cys636Tyr
NM_001195800.1:c.1526G>A	NP_001182729.1:p.Cys509Tyr
NM_001195803.1:c.1606+179G>A	NP_001182732.1:n.1606+179G>A
XM_011528010.1:c.2030G>A	XP_011526312.1:p.Cys677Tyr
XM_011528011.1:c.1649G>A	XP_011526313.1:p.Cys550Tyr
XR_244074.2:n.2040G>A
XM_011528010.2:c.2030G>A	XP_011526312.1:p.Cys677Tyr
XR_001753685.2:n.2147G>A
XR_001753686.2:n.2007G>A
NM_000527.5:c.2030G>A MANE Select	NP_000518.1:p.Cys677Tyr
NM_001195798.2:c.2030G>A	NP_001182727.1:p.Cys677Tyr
NM_001195799.2:c.1907G>A	NP_001182728.1:p.Cys636Tyr
NM_001195800.2:c.1526G>A	NP_001182729.1:p.Cys509Tyr
NM_001195803.2:c.1606+179G>A	NP_001182732.1:n.1606+179G>A