Canonical Allele Identifier: CA10585115

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251435
• ClinVar RCV Id: RCV000238279
• dbSNP Id: rs139507589
• MyVariant Identifiers: chr19:g.11217304G>C (hg19) ; chr19:g.11106628G>C (hg38)
• ERepo: CA10585115/MONDO:0007750/013
• PubMed: PMID:20236128

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106628G>C , CM000681.2:g.11106628G>C	GRCh38
NC_000019.9:g.11217304G>C , CM000681.1:g.11217304G>C	GRCh37
NC_000019.8:g.11078304G>C	NCBI36
NG_009060.1:g.22248G>C , LRG_274:g.22248G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1016G>C	ENSP00000252444.6:p.Arg339Pro
ENST00000559340.2:c.758G>C	ENSP00000453696.2:p.Arg253Pro
ENST00000560467.2:c.758G>C	ENSP00000453513.2:p.Arg253Pro
ENST00000558518.6:c.758G>C MANE Select	ENSP00000454071.1:p.Arg253Pro
ENST00000252444.9:c.1012G>C
ENST00000455727.6:c.314-764G>C	ENSP00000397829.2:n.314-764G>C
ENST00000535915.5:c.635G>C	ENSP00000440520.1:p.Arg212Pro
ENST00000545707.5:c.377G>C	ENSP00000437639.1:p.Arg126Pro
ENST00000557933.5:c.758G>C	ENSP00000453557.1:p.Arg253Pro
ENST00000558013.5:c.758G>C	ENSP00000453346.1:p.Arg253Pro
ENST00000558518.5:c.758G>C	ENSP00000454071.1:p.Arg253Pro
ENST00000558528.1:n.273G>C
ENST00000560467.1:c.358G>C
NM_000527.4:c.758G>C , LRG_274t1:c.758G>C	NP_000518.1:p.Arg253Pro
NM_001195798.1:c.758G>C	NP_001182727.1:p.Arg253Pro
NM_001195799.1:c.635G>C	NP_001182728.1:p.Arg212Pro
NM_001195800.1:c.314-764G>C	NP_001182729.1:n.314-764G>C
NM_001195803.1:c.377G>C	NP_001182732.1:p.Arg126Pro
XM_011528010.1:c.758G>C	XP_011526312.1:p.Arg253Pro
XM_011528011.1:c.377G>C	XP_011526313.1:p.Arg126Pro
XR_244074.2:n.908G>C
XM_011528010.2:c.758G>C	XP_011526312.1:p.Arg253Pro
XR_001753685.2:n.875G>C
XR_001753686.2:n.875G>C
NM_000527.5:c.758G>C MANE Select	NP_000518.1:p.Arg253Pro
NM_001195798.2:c.758G>C	NP_001182727.1:p.Arg253Pro
NM_001195799.2:c.635G>C	NP_001182728.1:p.Arg212Pro
NM_001195800.2:c.314-764G>C	NP_001182729.1:n.314-764G>C
NM_001195803.2:c.377G>C	NP_001182732.1:p.Arg126Pro