Canonical Allele Identifier: CA10576304

Gene: LDLR

Linked Data

• ClinVar Variation Id: 226354
• ClinVar RCV Id: RCV000211635 ; RCV000497836
• dbSNP Id: rs875989919
• gnomAD v4: 19-11113421-T-C
• MyVariant Identifiers: chr19:g.11224097T>C (hg19) ; chr19:g.11113421T>C (hg38)
• PubMed: PMID:16250003

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113421T>C , CM000681.2:g.11113421T>C	GRCh38
NC_000019.9:g.11224097T>C , CM000681.1:g.11224097T>C	GRCh37
NC_000019.8:g.11085097T>C	NCBI36
NG_009060.1:g.29041T>C , LRG_274:g.29041T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1588T>C	ENSP00000252444.6:p.Ser530Pro
ENST00000559340.2:c.1330T>C	ENSP00000453696.2:p.Ser444Pro
ENST00000560467.2:c.1210T>C	ENSP00000453513.2:p.Ser404Pro
ENST00000558518.6:c.1330T>C MANE Select	ENSP00000454071.1:p.Ser444Pro
ENST00000252444.9:c.1584T>C
ENST00000455727.6:c.826T>C	ENSP00000397829.2:p.Ser276Pro
ENST00000535915.5:c.1207T>C	ENSP00000440520.1:p.Ser403Pro
ENST00000545707.5:c.949T>C	ENSP00000437639.1:p.Ser317Pro
ENST00000557933.5:c.1330T>C	ENSP00000453557.1:p.Ser444Pro
ENST00000558013.5:c.1330T>C	ENSP00000453346.1:p.Ser444Pro
ENST00000558518.5:c.1330T>C	ENSP00000454071.1:p.Ser444Pro
ENST00000559340.1:c.51T>C
ENST00000560173.1:n.329T>C
ENST00000560467.1:c.810T>C
NM_000527.4:c.1330T>C , LRG_274t1:c.1330T>C	NP_000518.1:p.Ser444Pro
NM_001195798.1:c.1330T>C	NP_001182727.1:p.Ser444Pro
NM_001195799.1:c.1207T>C	NP_001182728.1:p.Ser403Pro
NM_001195800.1:c.826T>C	NP_001182729.1:p.Ser276Pro
NM_001195803.1:c.949T>C	NP_001182732.1:p.Ser317Pro
XM_011528010.1:c.1330T>C	XP_011526312.1:p.Ser444Pro
XM_011528011.1:c.949T>C	XP_011526313.1:p.Ser317Pro
XR_244074.2:n.1480T>C
XM_011528010.2:c.1330T>C	XP_011526312.1:p.Ser444Pro
XR_001753685.2:n.1447T>C
XR_001753686.2:n.1447T>C
NM_000527.5:c.1330T>C MANE Select	NP_000518.1:p.Ser444Pro
NM_001195798.2:c.1330T>C	NP_001182727.1:p.Ser444Pro
NM_001195799.2:c.1207T>C	NP_001182728.1:p.Ser403Pro
NM_001195800.2:c.826T>C	NP_001182729.1:p.Ser276Pro
NM_001195803.2:c.949T>C	NP_001182732.1:p.Ser317Pro