Canonical Allele Identifier: CA505486182

Gene: LDLR

Linked Data

• gnomAD v3: 19-11116911-A-C
• gnomAD v4: 19-11116911-A-C
• MyVariant Identifiers: chr19:g.11227587A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116911A>C , CM000681.2:g.11116911A>C	GRCh38
NC_000019.9:g.11227587A>C , CM000681.1:g.11227587A>C	GRCh37
NC_000019.8:g.11088587A>C	NCBI36
NG_009060.1:g.32531A>C , LRG_274:g.32531A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2016A>C	ENSP00000252444.6:p.Ser672=
ENST00000559340.2:c.1705+699A>C	ENSP00000453696.2:n.1705+699A>C
ENST00000560467.2:c.1638A>C	ENSP00000453513.2:p.Ser546=
ENST00000558518.6:c.1758A>C MANE Select	ENSP00000454071.1:p.Ser586=
ENST00000252444.9:c.2012A>C
ENST00000455727.6:c.1254A>C	ENSP00000397829.2:p.Ser418=
ENST00000535915.5:c.1635A>C	ENSP00000440520.1:p.Ser545=
ENST00000545707.5:c.1377A>C	ENSP00000437639.1:p.Ser459=
ENST00000557933.5:c.1758A>C	ENSP00000453557.1:p.Ser586=
ENST00000558013.5:c.1758A>C	ENSP00000453346.1:p.Ser586=
ENST00000558518.5:c.1758A>C	ENSP00000454071.1:p.Ser586=
ENST00000559340.1:c.426+699A>C
NM_000527.4:c.1758A>C , LRG_274t1:c.1758A>C	NP_000518.1:p.Ser586=
NM_001195798.1:c.1758A>C	NP_001182727.1:p.Ser586=
NM_001195799.1:c.1635A>C	NP_001182728.1:p.Ser545=
NM_001195800.1:c.1254A>C	NP_001182729.1:p.Ser418=
NM_001195803.1:c.1377A>C	NP_001182732.1:p.Ser459=
XM_011528010.1:c.1758A>C	XP_011526312.1:p.Ser586=
XM_011528011.1:c.1377A>C	XP_011526313.1:p.Ser459=
XR_244074.2:n.1855+699A>C
XM_011528010.2:c.1758A>C	XP_011526312.1:p.Ser586=
XR_001753685.2:n.1875A>C
XR_001753686.2:n.1822+699A>C
NM_000527.5:c.1758A>C MANE Select	NP_000518.1:p.Ser586=
NM_001195798.2:c.1758A>C	NP_001182727.1:p.Ser586=
NM_001195799.2:c.1635A>C	NP_001182728.1:p.Ser545=
NM_001195800.2:c.1254A>C	NP_001182729.1:p.Ser418=
NM_001195803.2:c.1377A>C	NP_001182732.1:p.Ser459=