Canonical Allele Identifier: CA10585195

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251525
• ClinVar RCV Id: RCV000237233
• dbSNP Id: rs879254719
• MyVariant Identifiers: chr19:g.11218169G>A (hg19) ; chr19:g.11107493G>A (hg38)
• ERepo: CA10585195/MONDO:0007750/013
• PubMed: PMID:21310417 ; PMID:22698793

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107493G>A , CM000681.2:g.11107493G>A	GRCh38
NC_000019.9:g.11218169G>A , CM000681.1:g.11218169G>A	GRCh37
NC_000019.8:g.11079169G>A	NCBI36
NG_009060.1:g.23113G>A , LRG_274:g.23113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1177G>A	ENSP00000252444.6:p.Asp393Asn
ENST00000559340.2:c.919G>A	ENSP00000453696.2:p.Asp307Asn
ENST00000560467.2:c.919G>A	ENSP00000453513.2:p.Asp307Asn
ENST00000558518.6:c.919G>A MANE Select	ENSP00000454071.1:p.Asp307Asn
ENST00000252444.9:c.1173G>A
ENST00000455727.6:c.415G>A	ENSP00000397829.2:p.Asp139Asn
ENST00000535915.5:c.796G>A	ENSP00000440520.1:p.Asp266Asn
ENST00000545707.5:c.538G>A	ENSP00000437639.1:p.Asp180Asn
ENST00000557933.5:c.919G>A	ENSP00000453557.1:p.Asp307Asn
ENST00000558013.5:c.919G>A	ENSP00000453346.1:p.Asp307Asn
ENST00000558518.5:c.919G>A	ENSP00000454071.1:p.Asp307Asn
ENST00000558528.1:n.434G>A
ENST00000560467.1:c.519G>A
NM_000527.4:c.919G>A , LRG_274t1:c.919G>A	NP_000518.1:p.Asp307Asn
NM_001195798.1:c.919G>A	NP_001182727.1:p.Asp307Asn
NM_001195799.1:c.796G>A	NP_001182728.1:p.Asp266Asn
NM_001195800.1:c.415G>A	NP_001182729.1:p.Asp139Asn
NM_001195803.1:c.538G>A	NP_001182732.1:p.Asp180Asn
XM_011528010.1:c.919G>A	XP_011526312.1:p.Asp307Asn
XM_011528011.1:c.538G>A	XP_011526313.1:p.Asp180Asn
XR_244074.2:n.1069G>A
XM_011528010.2:c.919G>A	XP_011526312.1:p.Asp307Asn
XR_001753685.2:n.1036G>A
XR_001753686.2:n.1036G>A
NM_000527.5:c.919G>A MANE Select	NP_000518.1:p.Asp307Asn
NM_001195798.2:c.919G>A	NP_001182727.1:p.Asp307Asn
NM_001195799.2:c.796G>A	NP_001182728.1:p.Asp266Asn
NM_001195800.2:c.415G>A	NP_001182729.1:p.Asp139Asn
NM_001195803.2:c.538G>A	NP_001182732.1:p.Asp180Asn