Canonical Allele Identifier: CA505487524

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1149152
• ClinVar RCV Id: RCV001489302
• dbSNP Id: rs2077662374
• gnomAD v4: 19-11128072-T-C
• MyVariant Identifiers: chr19:g.11238748T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128072T>C , CM000681.2:g.11128072T>C	GRCh38
NC_000019.9:g.11238748T>C , CM000681.1:g.11238748T>C	GRCh37
NC_000019.8:g.11099748T>C	NCBI36
NG_009060.1:g.43692T>C , LRG_274:g.43692T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2634T>C	ENSP00000252444.6:p.Ile878=
ENST00000559340.2:c.*445T>C	ENSP00000453696.2:n.*445T>C
ENST00000560467.2:c.2256T>C	ENSP00000453513.2:p.Ile752=
ENST00000558518.6:c.2376T>C MANE Select	ENSP00000454071.1:p.Ile792=
ENST00000252444.9:c.2630T>C
ENST00000455727.6:c.1872T>C	ENSP00000397829.2:p.Ile624=
ENST00000535915.5:c.2253T>C	ENSP00000440520.1:p.Ile751=
ENST00000545707.5:c.1842T>C	ENSP00000437639.1:p.Ile614=
ENST00000557933.5:c.2376T>C	ENSP00000453557.1:p.Ile792=
ENST00000558013.5:c.2376T>C	ENSP00000453346.1:p.Ile792=
ENST00000558518.5:c.2376T>C	ENSP00000454071.1:p.Ile792=
ENST00000560628.1:n.108+418T>C
NM_000527.4:c.2376T>C , LRG_274t1:c.2376T>C	NP_000518.1:p.Ile792=
NM_001195798.1:c.2376T>C	NP_001182727.1:p.Ile792=
NM_001195799.1:c.2253T>C	NP_001182728.1:p.Ile751=
NM_001195800.1:c.1872T>C	NP_001182729.1:p.Ile624=
NM_001195803.1:c.1842T>C	NP_001182732.1:p.Ile614=
XM_011528010.1:c.2312-1441T>C	XP_011526312.1:n.2312-1441T>C
XM_011528011.1:c.1995T>C	XP_011526313.1:p.Ile665=
XR_244074.2:n.2386T>C
XM_011528010.2:c.2312-1441T>C	XP_011526312.1:n.2312-1441T>C
XR_001753685.2:n.2710T>C
XR_001753686.2:n.2353T>C
NM_000527.5:c.2376T>C MANE Select	NP_000518.1:p.Ile792=
NM_001195798.2:c.2376T>C	NP_001182727.1:p.Ile792=
NM_001195799.2:c.2253T>C	NP_001182728.1:p.Ile751=
NM_001195800.2:c.1872T>C	NP_001182729.1:p.Ile624=
NM_001195803.2:c.1842T>C	NP_001182732.1:p.Ile614=