Canonical Allele Identifier: CA505743111

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2003531
• ClinVar RCV Id: RCV002811251
• gnomAD v4: 19-11113611-C-T
• MyVariant Identifiers: chr19:g.11224287C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113611C>T , CM000681.2:g.11113611C>T	GRCh38
NC_000019.9:g.11224287C>T , CM000681.1:g.11224287C>T	GRCh37
NC_000019.8:g.11085287C>T	NCBI36
NG_009060.1:g.29231C>T , LRG_274:g.29231C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1693C>T	ENSP00000252444.6:p.Leu565=
ENST00000559340.2:c.1435C>T	ENSP00000453696.2:p.Leu479=
ENST00000560467.2:c.1315C>T	ENSP00000453513.2:p.Leu439=
ENST00000558518.6:c.1435C>T MANE Select	ENSP00000454071.1:p.Leu479=
ENST00000252444.9:c.1689C>T
ENST00000455727.6:c.931C>T	ENSP00000397829.2:p.Leu311=
ENST00000535915.5:c.1312C>T	ENSP00000440520.1:p.Leu438=
ENST00000545707.5:c.1054C>T	ENSP00000437639.1:p.Leu352=
ENST00000557933.5:c.1435C>T	ENSP00000453557.1:p.Leu479=
ENST00000558013.5:c.1435C>T	ENSP00000453346.1:p.Leu479=
ENST00000558518.5:c.1435C>T	ENSP00000454071.1:p.Leu479=
ENST00000559340.1:c.156C>T
ENST00000560467.1:c.915C>T
NM_000527.4:c.1435C>T , LRG_274t1:c.1435C>T	NP_000518.1:p.Leu479=
NM_001195798.1:c.1435C>T	NP_001182727.1:p.Leu479=
NM_001195799.1:c.1312C>T	NP_001182728.1:p.Leu438=
NM_001195800.1:c.931C>T	NP_001182729.1:p.Leu311=
NM_001195803.1:c.1054C>T	NP_001182732.1:p.Leu352=
XM_011528010.1:c.1435C>T	XP_011526312.1:p.Leu479=
XM_011528011.1:c.1054C>T	XP_011526313.1:p.Leu352=
XR_244074.2:n.1585C>T
XM_011528010.2:c.1435C>T	XP_011526312.1:p.Leu479=
XR_001753685.2:n.1552C>T
XR_001753686.2:n.1552C>T
NM_000527.5:c.1435C>T MANE Select	NP_000518.1:p.Leu479=
NM_001195798.2:c.1435C>T	NP_001182727.1:p.Leu479=
NM_001195799.2:c.1312C>T	NP_001182728.1:p.Leu438=
NM_001195800.2:c.931C>T	NP_001182729.1:p.Leu311=
NM_001195803.2:c.1054C>T	NP_001182732.1:p.Leu352=