Canonical Allele Identifier: CA505486216

Gene: LDLR

Linked Data

• dbSNP Id: rs1263256149
• gnomAD v2: 19-11227608-C-T
• gnomAD v4: 19-11116932-C-T
• MyVariant Identifiers: chr19:g.11227608C>T (hg19) ; chr19:g.11116932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116932C>T , CM000681.2:g.11116932C>T	GRCh38
NC_000019.9:g.11227608C>T , CM000681.1:g.11227608C>T	GRCh37
NC_000019.8:g.11088608C>T	NCBI36
NG_009060.1:g.32552C>T , LRG_274:g.32552C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2037C>T	ENSP00000252444.6:p.Gly679=
ENST00000559340.2:c.1705+720C>T	ENSP00000453696.2:n.1705+720C>T
ENST00000560467.2:c.1659C>T	ENSP00000453513.2:p.Gly553=
ENST00000558518.6:c.1779C>T MANE Select	ENSP00000454071.1:p.Gly593=
ENST00000252444.9:c.2033C>T
ENST00000455727.6:c.1275C>T	ENSP00000397829.2:p.Gly425=
ENST00000535915.5:c.1656C>T	ENSP00000440520.1:p.Gly552=
ENST00000545707.5:c.1398C>T	ENSP00000437639.1:p.Gly466=
ENST00000557933.5:c.1779C>T	ENSP00000453557.1:p.Gly593=
ENST00000558013.5:c.1779C>T	ENSP00000453346.1:p.Gly593=
ENST00000558518.5:c.1779C>T	ENSP00000454071.1:p.Gly593=
ENST00000559340.1:c.426+720C>T
NM_000527.4:c.1779C>T , LRG_274t1:c.1779C>T	NP_000518.1:p.Gly593=
NM_001195798.1:c.1779C>T	NP_001182727.1:p.Gly593=
NM_001195799.1:c.1656C>T	NP_001182728.1:p.Gly552=
NM_001195800.1:c.1275C>T	NP_001182729.1:p.Gly425=
NM_001195803.1:c.1398C>T	NP_001182732.1:p.Gly466=
XM_011528010.1:c.1779C>T	XP_011526312.1:p.Gly593=
XM_011528011.1:c.1398C>T	XP_011526313.1:p.Gly466=
XR_244074.2:n.1855+720C>T
XM_011528010.2:c.1779C>T	XP_011526312.1:p.Gly593=
XR_001753685.2:n.1896C>T
XR_001753686.2:n.1822+720C>T
NM_000527.5:c.1779C>T MANE Select	NP_000518.1:p.Gly593=
NM_001195798.2:c.1779C>T	NP_001182727.1:p.Gly593=
NM_001195799.2:c.1656C>T	NP_001182728.1:p.Gly552=
NM_001195800.2:c.1275C>T	NP_001182729.1:p.Gly425=
NM_001195803.2:c.1398C>T	NP_001182732.1:p.Gly466=