Canonical Allele Identifier: CA10585731

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252176
• ClinVar RCV Id: RCV002518493
• dbSNP Id: rs745753810
• gnomAD v2: 19-11231084-G-C
• gnomAD v3: 19-11120408-G-C
• gnomAD v4: 19-11120408-G-C
• MyVariant Identifiers: chr19:g.11231084G>C (hg19) ; chr19:g.11120408G>C (hg38)
• PubMed: PMID:26892515

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120408G>C , CM000681.2:g.11120408G>C	GRCh38
NC_000019.9:g.11231084G>C , CM000681.1:g.11231084G>C	GRCh37
NC_000019.8:g.11092084G>C	NCBI36
NG_009060.1:g.36028G>C , LRG_274:g.36028G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2284G>C	ENSP00000252444.6:p.Gly762Arg
ENST00000559340.2:c.*95G>C	ENSP00000453696.2:n.*95G>C
ENST00000560467.2:c.1906G>C	ENSP00000453513.2:p.Gly636Arg
ENST00000558518.6:c.2026G>C MANE Select	ENSP00000454071.1:p.Gly676Arg
ENST00000252444.9:c.2280G>C
ENST00000455727.6:c.1522G>C	ENSP00000397829.2:p.Gly508Arg
ENST00000535915.5:c.1903G>C	ENSP00000440520.1:p.Gly635Arg
ENST00000545707.5:c.1606+175G>C	ENSP00000437639.1:n.1606+175G>C
ENST00000557933.5:c.2026G>C	ENSP00000453557.1:p.Gly676Arg
ENST00000558013.5:c.2026G>C	ENSP00000453346.1:p.Gly676Arg
ENST00000558518.5:c.2026G>C	ENSP00000454071.1:p.Gly676Arg
NM_000527.4:c.2026G>C , LRG_274t1:c.2026G>C	NP_000518.1:p.Gly676Arg
NM_001195798.1:c.2026G>C	NP_001182727.1:p.Gly676Arg
NM_001195799.1:c.1903G>C	NP_001182728.1:p.Gly635Arg
NM_001195800.1:c.1522G>C	NP_001182729.1:p.Gly508Arg
NM_001195803.1:c.1606+175G>C	NP_001182732.1:n.1606+175G>C
XM_011528010.1:c.2026G>C	XP_011526312.1:p.Gly676Arg
XM_011528011.1:c.1645G>C	XP_011526313.1:p.Gly549Arg
XR_244074.2:n.2036G>C
XM_011528010.2:c.2026G>C	XP_011526312.1:p.Gly676Arg
XR_001753685.2:n.2143G>C
XR_001753686.2:n.2003G>C
NM_000527.5:c.2026G>C MANE Select	NP_000518.1:p.Gly676Arg
NM_001195798.2:c.2026G>C	NP_001182727.1:p.Gly676Arg
NM_001195799.2:c.1903G>C	NP_001182728.1:p.Gly635Arg
NM_001195800.2:c.1522G>C	NP_001182729.1:p.Gly508Arg
NM_001195803.2:c.1606+175G>C	NP_001182732.1:n.1606+175G>C