Canonical Allele Identifier: CA10584855

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251156
• ClinVar RCV Id: RCV000237408 ; RCV002321915 ; RCV003422164 ; RCV003581594
• dbSNP Id: rs140807148
• gnomAD v2: 19-11215907-T-C
• gnomAD v4: 19-11105231-T-C
• MyVariant Identifiers: chr19:g.11215907T>C (hg19) ; chr19:g.11105231T>C (hg38)
• PubMed: PMID:1301956 ; PMID:16250003 ; PMID:16314194 ; PMID:22698793

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105231T>C , CM000681.2:g.11105231T>C	GRCh38
NC_000019.9:g.11215907T>C , CM000681.1:g.11215907T>C	GRCh37
NC_000019.8:g.11076907T>C	NCBI36
NG_009060.1:g.20851T>C , LRG_274:g.20851T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.583T>C	ENSP00000252444.6:p.Cys195Arg
ENST00000559340.2:c.325T>C	ENSP00000453696.2:p.Cys109Arg
ENST00000560467.2:c.325T>C	ENSP00000453513.2:p.Cys109Arg
ENST00000558518.6:c.325T>C MANE Select	ENSP00000454071.1:p.Cys109Arg
ENST00000252444.9:c.579T>C
ENST00000455727.6:c.314-2161T>C	ENSP00000397829.2:n.314-2161T>C
ENST00000535915.5:c.202T>C	ENSP00000440520.1:p.Cys68Arg
ENST00000545707.5:c.314-1334T>C	ENSP00000437639.1:n.314-1334T>C
ENST00000557933.5:c.325T>C	ENSP00000453557.1:p.Cys109Arg
ENST00000558013.5:c.325T>C	ENSP00000453346.1:p.Cys109Arg
ENST00000558518.5:c.325T>C	ENSP00000454071.1:p.Cys109Arg
NM_000527.4:c.325T>C , LRG_274t1:c.325T>C	NP_000518.1:p.Cys109Arg
NM_001195798.1:c.325T>C	NP_001182727.1:p.Cys109Arg
NM_001195799.1:c.202T>C	NP_001182728.1:p.Cys68Arg
NM_001195800.1:c.314-2161T>C	NP_001182729.1:n.314-2161T>C
NM_001195803.1:c.314-1334T>C	NP_001182732.1:n.314-1334T>C
XM_011528010.1:c.325T>C	XP_011526312.1:p.Cys109Arg
XM_011528011.1:c.314-1334T>C	XP_011526313.1:n.314-1334T>C
XR_244074.2:n.475T>C
XM_011528010.2:c.325T>C	XP_011526312.1:p.Cys109Arg
XR_001753685.2:n.442T>C
XR_001753686.2:n.442T>C
NM_000527.5:c.325T>C MANE Select	NP_000518.1:p.Cys109Arg
NM_001195798.2:c.325T>C	NP_001182727.1:p.Cys109Arg
NM_001195799.2:c.202T>C	NP_001182728.1:p.Cys68Arg
NM_001195800.2:c.314-2161T>C	NP_001182729.1:n.314-2161T>C
NM_001195803.2:c.314-1334T>C	NP_001182732.1:n.314-1334T>C