Canonical Allele Identifier: CA404094850

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11233880C>G (hg19) ; chr19:g.11123204C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123204C>G , CM000681.2:g.11123204C>G	GRCh38
NC_000019.9:g.11233880C>G , CM000681.1:g.11233880C>G	GRCh37
NC_000019.8:g.11094880C>G	NCBI36
NG_009060.1:g.38824C>G , LRG_274:g.38824C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2429C>G	ENSP00000252444.6:p.Thr810Arg
ENST00000559340.2:c.*240C>G	ENSP00000453696.2:n.*240C>G
ENST00000560467.2:c.2051C>G	ENSP00000453513.2:p.Thr684Arg
ENST00000558518.6:c.2171C>G MANE Select	ENSP00000454071.1:p.Thr724Arg
ENST00000252444.9:c.2425C>G
ENST00000455727.6:c.1667C>G	ENSP00000397829.2:p.Thr556Arg
ENST00000535915.5:c.2048C>G	ENSP00000440520.1:p.Thr683Arg
ENST00000545707.5:c.1637C>G	ENSP00000437639.1:p.Thr546Arg
ENST00000557933.5:c.2171C>G	ENSP00000453557.1:p.Thr724Arg
ENST00000558013.5:c.2171C>G	ENSP00000453346.1:p.Thr724Arg
ENST00000558518.5:c.2171C>G	ENSP00000454071.1:p.Thr724Arg
NM_000527.4:c.2171C>G , LRG_274t1:c.2171C>G	NP_000518.1:p.Thr724Arg
NM_001195798.1:c.2171C>G	NP_001182727.1:p.Thr724Arg
NM_001195799.1:c.2048C>G	NP_001182728.1:p.Thr683Arg
NM_001195800.1:c.1667C>G	NP_001182729.1:p.Thr556Arg
NM_001195803.1:c.1637C>G	NP_001182732.1:p.Thr546Arg
XM_011528010.1:c.2171C>G	XP_011526312.1:p.Thr724Arg
XM_011528011.1:c.1790C>G	XP_011526313.1:p.Thr597Arg
XR_244074.2:n.2181C>G
XM_011528010.2:c.2171C>G	XP_011526312.1:p.Thr724Arg
XR_001753685.2:n.2505C>G
XR_001753686.2:n.2148C>G
NM_000527.5:c.2171C>G MANE Select	NP_000518.1:p.Thr724Arg
NM_001195798.2:c.2171C>G	NP_001182727.1:p.Thr724Arg
NM_001195799.2:c.2048C>G	NP_001182728.1:p.Thr683Arg
NM_001195800.2:c.1667C>G	NP_001182729.1:p.Thr556Arg
NM_001195803.2:c.1637C>G	NP_001182732.1:p.Thr546Arg