Canonical Allele Identifier: CA10585270

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251621
• ClinVar RCV Id: RCV000238410 ; RCV001854898
• dbSNP Id: rs13306515
• gnomAD v4: 19-11110767-C-A
• MyVariant Identifiers: chr19:g.11221443C>A (hg19) ; chr19:g.11110767C>A (hg38)
• PubMed: PMID:9654205

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110767C>A , CM000681.2:g.11110767C>A	GRCh38
NC_000019.9:g.11221443C>A , CM000681.1:g.11221443C>A	GRCh37
NC_000019.8:g.11082443C>A	NCBI36
NG_009060.1:g.26387C>A , LRG_274:g.26387C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1314C>A	ENSP00000252444.6:p.Cys438Ter
ENST00000559340.2:c.1056C>A	ENSP00000453696.2:p.Cys352Ter
ENST00000560467.2:c.941-747C>A	ENSP00000453513.2:n.941-747C>A
ENST00000558518.6:c.1056C>A MANE Select	ENSP00000454071.1:p.Cys352Ter
ENST00000252444.9:c.1310C>A
ENST00000455727.6:c.552C>A	ENSP00000397829.2:p.Cys184Ter
ENST00000535915.5:c.933C>A	ENSP00000440520.1:p.Cys311Ter
ENST00000545707.5:c.675C>A	ENSP00000437639.1:p.Cys225Ter
ENST00000557933.5:c.1056C>A	ENSP00000453557.1:p.Cys352Ter
ENST00000558013.5:c.1056C>A	ENSP00000453346.1:p.Cys352Ter
ENST00000558518.5:c.1056C>A	ENSP00000454071.1:p.Cys352Ter
ENST00000560173.1:n.55C>A
ENST00000560467.1:c.541-747C>A
NM_000527.4:c.1056C>A , LRG_274t1:c.1056C>A	NP_000518.1:p.Cys352Ter
NM_001195798.1:c.1056C>A	NP_001182727.1:p.Cys352Ter
NM_001195799.1:c.933C>A	NP_001182728.1:p.Cys311Ter
NM_001195800.1:c.552C>A	NP_001182729.1:p.Cys184Ter
NM_001195803.1:c.675C>A	NP_001182732.1:p.Cys225Ter
XM_011528010.1:c.1056C>A	XP_011526312.1:p.Cys352Ter
XM_011528011.1:c.675C>A	XP_011526313.1:p.Cys225Ter
XR_244074.2:n.1206C>A
XM_011528010.2:c.1056C>A	XP_011526312.1:p.Cys352Ter
XR_001753685.2:n.1173C>A
XR_001753686.2:n.1173C>A
NM_000527.5:c.1056C>A MANE Select	NP_000518.1:p.Cys352Ter
NM_001195798.2:c.1056C>A	NP_001182727.1:p.Cys352Ter
NM_001195799.2:c.933C>A	NP_001182728.1:p.Cys311Ter
NM_001195800.2:c.552C>A	NP_001182729.1:p.Cys184Ter
NM_001195803.2:c.675C>A	NP_001182732.1:p.Cys225Ter