Canonical Allele Identifier: CA10584874

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251175
• ClinVar RCV Id: RCV000238463
• dbSNP Id: rs879254492
• gnomAD v4: 19-11105267-T-G
• MyVariant Identifiers: chr19:g.11215943T>G (hg19) ; chr19:g.11105267T>G (hg38)
• PubMed: PMID:12417285

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105267T>G , CM000681.2:g.11105267T>G	GRCh38
NC_000019.9:g.11215943T>G , CM000681.1:g.11215943T>G	GRCh37
NC_000019.8:g.11076943T>G	NCBI36
NG_009060.1:g.20887T>G , LRG_274:g.20887T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.619T>G	ENSP00000252444.6:p.Cys207Gly
ENST00000559340.2:c.361T>G	ENSP00000453696.2:p.Cys121Gly
ENST00000560467.2:c.361T>G	ENSP00000453513.2:p.Cys121Gly
ENST00000558518.6:c.361T>G MANE Select	ENSP00000454071.1:p.Cys121Gly
ENST00000252444.9:c.615T>G
ENST00000455727.6:c.314-2125T>G	ENSP00000397829.2:n.314-2125T>G
ENST00000535915.5:c.238T>G	ENSP00000440520.1:p.Cys80Gly
ENST00000545707.5:c.314-1298T>G	ENSP00000437639.1:n.314-1298T>G
ENST00000557933.5:c.361T>G	ENSP00000453557.1:p.Cys121Gly
ENST00000558013.5:c.361T>G	ENSP00000453346.1:p.Cys121Gly
ENST00000558518.5:c.361T>G	ENSP00000454071.1:p.Cys121Gly
NM_000527.4:c.361T>G , LRG_274t1:c.361T>G	NP_000518.1:p.Cys121Gly
NM_001195798.1:c.361T>G	NP_001182727.1:p.Cys121Gly
NM_001195799.1:c.238T>G	NP_001182728.1:p.Cys80Gly
NM_001195800.1:c.314-2125T>G	NP_001182729.1:n.314-2125T>G
NM_001195803.1:c.314-1298T>G	NP_001182732.1:n.314-1298T>G
XM_011528010.1:c.361T>G	XP_011526312.1:p.Cys121Gly
XM_011528011.1:c.314-1298T>G	XP_011526313.1:n.314-1298T>G
XR_244074.2:n.511T>G
XM_011528010.2:c.361T>G	XP_011526312.1:p.Cys121Gly
XR_001753685.2:n.478T>G
XR_001753686.2:n.478T>G
NM_000527.5:c.361T>G MANE Select	NP_000518.1:p.Cys121Gly
NM_001195798.2:c.361T>G	NP_001182727.1:p.Cys121Gly
NM_001195799.2:c.238T>G	NP_001182728.1:p.Cys80Gly
NM_001195800.2:c.314-2125T>G	NP_001182729.1:n.314-2125T>G
NM_001195803.2:c.314-1298T>G	NP_001182732.1:n.314-1298T>G