Canonical Allele Identifier: CA10585655

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252084
• ClinVar RCV Id: RCV000237536 ; RCV001854906
• dbSNP Id: rs879255054
• gnomAD v4: 19-11120102-T-C
• MyVariant Identifiers: chr19:g.11230778T>C (hg19) ; chr19:g.11120102T>C (hg38)
• ERepo: CA10585655/MONDO:0007750/013
• PubMed: PMID:20809525

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120102T>C , CM000681.2:g.11120102T>C	GRCh38
NC_000019.9:g.11230778T>C , CM000681.1:g.11230778T>C	GRCh37
NC_000019.8:g.11091778T>C	NCBI36
NG_009060.1:g.35722T>C , LRG_274:g.35722T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2114T>C	ENSP00000252444.6:p.Phe705Ser
ENST00000559340.2:c.1716T>C	ENSP00000453696.2:p.Ile572=
ENST00000560467.2:c.1736T>C	ENSP00000453513.2:p.Phe579Ser
ENST00000558518.6:c.1856T>C MANE Select	ENSP00000454071.1:p.Phe619Ser
ENST00000252444.9:c.2110T>C
ENST00000455727.6:c.1352T>C	ENSP00000397829.2:p.Phe451Ser
ENST00000535915.5:c.1733T>C	ENSP00000440520.1:p.Phe578Ser
ENST00000545707.5:c.1475T>C	ENSP00000437639.1:p.Phe492Ser
ENST00000557933.5:c.1856T>C	ENSP00000453557.1:p.Phe619Ser
ENST00000558013.5:c.1856T>C	ENSP00000453346.1:p.Phe619Ser
ENST00000558518.5:c.1856T>C	ENSP00000454071.1:p.Phe619Ser
ENST00000559340.1:c.437T>C
NM_000527.4:c.1856T>C , LRG_274t1:c.1856T>C	NP_000518.1:p.Phe619Ser
NM_001195798.1:c.1856T>C	NP_001182727.1:p.Phe619Ser
NM_001195799.1:c.1733T>C	NP_001182728.1:p.Phe578Ser
NM_001195800.1:c.1352T>C	NP_001182729.1:p.Phe451Ser
NM_001195803.1:c.1475T>C	NP_001182732.1:p.Phe492Ser
XM_011528010.1:c.1856T>C	XP_011526312.1:p.Phe619Ser
XM_011528011.1:c.1475T>C	XP_011526313.1:p.Phe492Ser
XR_244074.2:n.1866T>C
XM_011528010.2:c.1856T>C	XP_011526312.1:p.Phe619Ser
XR_001753685.2:n.1973T>C
XR_001753686.2:n.1833T>C
NM_000527.5:c.1856T>C MANE Select	NP_000518.1:p.Phe619Ser
NM_001195798.2:c.1856T>C	NP_001182727.1:p.Phe619Ser
NM_001195799.2:c.1733T>C	NP_001182728.1:p.Phe578Ser
NM_001195800.2:c.1352T>C	NP_001182729.1:p.Phe451Ser
NM_001195803.2:c.1475T>C	NP_001182732.1:p.Phe492Ser