Canonical Allele Identifier: CA404086311

Gene: LDLR

Linked Data

• dbSNP Id: rs1200606535
• gnomAD v2: 19-11224330-C-G
• gnomAD v4: 19-11113654-C-G
• MyVariant Identifiers: chr19:g.11224330C>G (hg19) ; chr19:g.11113654C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113654C>G , CM000681.2:g.11113654C>G	GRCh38
NC_000019.9:g.11224330C>G , CM000681.1:g.11224330C>G	GRCh37
NC_000019.8:g.11085330C>G	NCBI36
NG_009060.1:g.29274C>G , LRG_274:g.29274C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1736C>G	ENSP00000252444.6:p.Ser579Cys
ENST00000559340.2:c.1478C>G	ENSP00000453696.2:p.Ser493Cys
ENST00000560467.2:c.1358C>G	ENSP00000453513.2:p.Ser453Cys
ENST00000558518.6:c.1478C>G MANE Select	ENSP00000454071.1:p.Ser493Cys
ENST00000252444.9:c.1732C>G
ENST00000455727.6:c.974C>G	ENSP00000397829.2:p.Ser325Cys
ENST00000535915.5:c.1355C>G	ENSP00000440520.1:p.Ser452Cys
ENST00000545707.5:c.1097C>G	ENSP00000437639.1:p.Ser366Cys
ENST00000557933.5:c.1478C>G	ENSP00000453557.1:p.Ser493Cys
ENST00000558013.5:c.1478C>G	ENSP00000453346.1:p.Ser493Cys
ENST00000558518.5:c.1478C>G	ENSP00000454071.1:p.Ser493Cys
ENST00000559340.1:c.199C>G
NM_000527.4:c.1478C>G , LRG_274t1:c.1478C>G	NP_000518.1:p.Ser493Cys
NM_001195798.1:c.1478C>G	NP_001182727.1:p.Ser493Cys
NM_001195799.1:c.1355C>G	NP_001182728.1:p.Ser452Cys
NM_001195800.1:c.974C>G	NP_001182729.1:p.Ser325Cys
NM_001195803.1:c.1097C>G	NP_001182732.1:p.Ser366Cys
XM_011528010.1:c.1478C>G	XP_011526312.1:p.Ser493Cys
XM_011528011.1:c.1097C>G	XP_011526313.1:p.Ser366Cys
XR_244074.2:n.1628C>G
XM_011528010.2:c.1478C>G	XP_011526312.1:p.Ser493Cys
XR_001753685.2:n.1595C>G
XR_001753686.2:n.1595C>G
NM_000527.5:c.1478C>G MANE Select	NP_000518.1:p.Ser493Cys
NM_001195798.2:c.1478C>G	NP_001182727.1:p.Ser493Cys
NM_001195799.2:c.1355C>G	NP_001182728.1:p.Ser452Cys
NM_001195800.2:c.974C>G	NP_001182729.1:p.Ser325Cys
NM_001195803.2:c.1097C>G	NP_001182732.1:p.Ser366Cys