Canonical Allele Identifier: CA404089679

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1059537
• ClinVar RCV Id: RCV002488147 ; RCV003169887
• dbSNP Id: rs1249568272
• gnomAD v2: 19-11227553-T-C
• gnomAD v4: 19-11116877-T-C
• MyVariant Identifiers: chr19:g.11227553T>C (hg19) ; chr19:g.11116877T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116877T>C , CM000681.2:g.11116877T>C	GRCh38
NC_000019.9:g.11227553T>C , CM000681.1:g.11227553T>C	GRCh37
NC_000019.8:g.11088553T>C	NCBI36
NG_009060.1:g.32497T>C , LRG_274:g.32497T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1982T>C	ENSP00000252444.6:p.Leu661Pro
ENST00000559340.2:c.1705+665T>C	ENSP00000453696.2:n.1705+665T>C
ENST00000560467.2:c.1604T>C	ENSP00000453513.2:p.Leu535Pro
ENST00000558518.6:c.1724T>C MANE Select	ENSP00000454071.1:p.Leu575Pro
ENST00000252444.9:c.1978T>C
ENST00000455727.6:c.1220T>C	ENSP00000397829.2:p.Leu407Pro
ENST00000535915.5:c.1601T>C	ENSP00000440520.1:p.Leu534Pro
ENST00000545707.5:c.1343T>C	ENSP00000437639.1:p.Leu448Pro
ENST00000557933.5:c.1724T>C	ENSP00000453557.1:p.Leu575Pro
ENST00000558013.5:c.1724T>C	ENSP00000453346.1:p.Leu575Pro
ENST00000558518.5:c.1724T>C	ENSP00000454071.1:p.Leu575Pro
ENST00000559340.1:c.426+665T>C
NM_000527.4:c.1724T>C , LRG_274t1:c.1724T>C	NP_000518.1:p.Leu575Pro
NM_001195798.1:c.1724T>C	NP_001182727.1:p.Leu575Pro
NM_001195799.1:c.1601T>C	NP_001182728.1:p.Leu534Pro
NM_001195800.1:c.1220T>C	NP_001182729.1:p.Leu407Pro
NM_001195803.1:c.1343T>C	NP_001182732.1:p.Leu448Pro
XM_011528010.1:c.1724T>C	XP_011526312.1:p.Leu575Pro
XM_011528011.1:c.1343T>C	XP_011526313.1:p.Leu448Pro
XR_244074.2:n.1855+665T>C
XM_011528010.2:c.1724T>C	XP_011526312.1:p.Leu575Pro
XR_001753685.2:n.1841T>C
XR_001753686.2:n.1822+665T>C
NM_000527.5:c.1724T>C MANE Select	NP_000518.1:p.Leu575Pro
NM_001195798.2:c.1724T>C	NP_001182727.1:p.Leu575Pro
NM_001195799.2:c.1601T>C	NP_001182728.1:p.Leu534Pro
NM_001195800.2:c.1220T>C	NP_001182729.1:p.Leu407Pro
NM_001195803.2:c.1343T>C	NP_001182732.1:p.Leu448Pro