Canonical Allele Identifier: CA10585319

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251680
• ClinVar RCV Id: RCV000238460
• dbSNP Id: rs773064328
• gnomAD v3: 19-11111582-T-G
• gnomAD v4: 19-11111582-T-G
• MyVariant Identifiers: chr19:g.11222258T>G (hg19) ; chr19:g.11111582T>G (hg38)
• PubMed: PMID:24722143

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111582T>G , CM000681.2:g.11111582T>G	GRCh38
NC_000019.9:g.11222258T>G , CM000681.1:g.11222258T>G	GRCh37
NC_000019.8:g.11083258T>G	NCBI36
NG_009060.1:g.27202T>G , LRG_274:g.27202T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1387T>G	ENSP00000252444.6:p.Cys463Gly
ENST00000559340.2:c.1129T>G	ENSP00000453696.2:p.Cys377Gly
ENST00000560467.2:c.1009T>G	ENSP00000453513.2:p.Cys337Gly
ENST00000558518.6:c.1129T>G MANE Select	ENSP00000454071.1:p.Cys377Gly
ENST00000252444.9:c.1383T>G
ENST00000455727.6:c.625T>G	ENSP00000397829.2:p.Cys209Gly
ENST00000535915.5:c.1006T>G	ENSP00000440520.1:p.Cys336Gly
ENST00000545707.5:c.748T>G	ENSP00000437639.1:p.Cys250Gly
ENST00000557933.5:c.1129T>G	ENSP00000453557.1:p.Cys377Gly
ENST00000558013.5:c.1129T>G	ENSP00000453346.1:p.Cys377Gly
ENST00000558518.5:c.1129T>G	ENSP00000454071.1:p.Cys377Gly
ENST00000560173.1:n.128T>G
ENST00000560467.1:c.609T>G
NM_000527.4:c.1129T>G , LRG_274t1:c.1129T>G	NP_000518.1:p.Cys377Gly
NM_001195798.1:c.1129T>G	NP_001182727.1:p.Cys377Gly
NM_001195799.1:c.1006T>G	NP_001182728.1:p.Cys336Gly
NM_001195800.1:c.625T>G	NP_001182729.1:p.Cys209Gly
NM_001195803.1:c.748T>G	NP_001182732.1:p.Cys250Gly
XM_011528010.1:c.1129T>G	XP_011526312.1:p.Cys377Gly
XM_011528011.1:c.748T>G	XP_011526313.1:p.Cys250Gly
XR_244074.2:n.1279T>G
XM_011528010.2:c.1129T>G	XP_011526312.1:p.Cys377Gly
XR_001753685.2:n.1246T>G
XR_001753686.2:n.1246T>G
NM_000527.5:c.1129T>G MANE Select	NP_000518.1:p.Cys377Gly
NM_001195798.2:c.1129T>G	NP_001182727.1:p.Cys377Gly
NM_001195799.2:c.1006T>G	NP_001182728.1:p.Cys336Gly
NM_001195800.2:c.625T>G	NP_001182729.1:p.Cys209Gly
NM_001195803.2:c.748T>G	NP_001182732.1:p.Cys250Gly