Canonical Allele Identifier: CA10585742

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252187
• ClinVar RCV Id: RCV000237573
• dbSNP Id: rs201637900
• gnomAD v4: 19-11120424-G-C
• MyVariant Identifiers: chr19:g.11231100G>C (hg19) ; chr19:g.11120424G>C (hg38)
• PubMed: PMID:16389549

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120424G>C , CM000681.2:g.11120424G>C	GRCh38
NC_000019.9:g.11231100G>C , CM000681.1:g.11231100G>C	GRCh37
NC_000019.8:g.11092100G>C	NCBI36
NG_009060.1:g.36044G>C , LRG_274:g.36044G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2300G>C	ENSP00000252444.6:p.Cys767Ser
ENST00000559340.2:c.*111G>C	ENSP00000453696.2:n.*111G>C
ENST00000560467.2:c.1922G>C	ENSP00000453513.2:p.Cys641Ser
ENST00000558518.6:c.2042G>C MANE Select	ENSP00000454071.1:p.Cys681Ser
ENST00000252444.9:c.2296G>C
ENST00000455727.6:c.1538G>C	ENSP00000397829.2:p.Cys513Ser
ENST00000535915.5:c.1919G>C	ENSP00000440520.1:p.Cys640Ser
ENST00000545707.5:c.1606+191G>C	ENSP00000437639.1:n.1606+191G>C
ENST00000557933.5:c.2042G>C	ENSP00000453557.1:p.Cys681Ser
ENST00000558013.5:c.2042G>C	ENSP00000453346.1:p.Cys681Ser
ENST00000558518.5:c.2042G>C	ENSP00000454071.1:p.Cys681Ser
NM_000527.4:c.2042G>C , LRG_274t1:c.2042G>C	NP_000518.1:p.Cys681Ser
NM_001195798.1:c.2042G>C	NP_001182727.1:p.Cys681Ser
NM_001195799.1:c.1919G>C	NP_001182728.1:p.Cys640Ser
NM_001195800.1:c.1538G>C	NP_001182729.1:p.Cys513Ser
NM_001195803.1:c.1606+191G>C	NP_001182732.1:n.1606+191G>C
XM_011528010.1:c.2042G>C	XP_011526312.1:p.Cys681Ser
XM_011528011.1:c.1661G>C	XP_011526313.1:p.Cys554Ser
XR_244074.2:n.2052G>C
XM_011528010.2:c.2042G>C	XP_011526312.1:p.Cys681Ser
XR_001753685.2:n.2159G>C
XR_001753686.2:n.2019G>C
NM_000527.5:c.2042G>C MANE Select	NP_000518.1:p.Cys681Ser
NM_001195798.2:c.2042G>C	NP_001182727.1:p.Cys681Ser
NM_001195799.2:c.1919G>C	NP_001182728.1:p.Cys640Ser
NM_001195800.2:c.1538G>C	NP_001182729.1:p.Cys513Ser
NM_001195803.2:c.1606+191G>C	NP_001182732.1:n.1606+191G>C