Canonical Allele Identifier: CA023744

Gene: LDLR

Linked Data

• ClinVar Variation Id: 3706
• ClinVar RCV Id: RCV000003896 ; RCV001851629 ; RCV002362557
• dbSNP Id: rs387906303
• gnomAD v4: 19-11105576-G-A
• MyVariant Identifiers: chr19:g.11216252G>A (hg19) ; chr19:g.11105576G>A (hg38)
• PubMed: PMID:1301956 ; PMID:3020025 ; PMID:15576851 ; PMID:27765764

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105576G>A , CM000681.2:g.11105576G>A	GRCh38
NC_000019.9:g.11216252G>A , CM000681.1:g.11216252G>A	GRCh37
NC_000019.8:g.11077252G>A	NCBI36
NG_009060.1:g.21196G>A , LRG_274:g.21196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.928G>A	ENSP00000252444.6:p.Asp310Asn
ENST00000559340.2:c.670G>A	ENSP00000453696.2:p.Asp224Asn
ENST00000560467.2:c.670G>A	ENSP00000453513.2:p.Asp224Asn
ENST00000558518.6:c.670G>A MANE Select	ENSP00000454071.1:p.Asp224Asn
ENST00000252444.9:c.924G>A
ENST00000455727.6:c.314-1816G>A	ENSP00000397829.2:n.314-1816G>A
ENST00000535915.5:c.547G>A	ENSP00000440520.1:p.Asp183Asn
ENST00000545707.5:c.314-989G>A	ENSP00000437639.1:n.314-989G>A
ENST00000557933.5:c.670G>A	ENSP00000453557.1:p.Asp224Asn
ENST00000558013.5:c.670G>A	ENSP00000453346.1:p.Asp224Asn
ENST00000558518.5:c.670G>A	ENSP00000454071.1:p.Asp224Asn
ENST00000560467.1:c.270G>A
NM_000527.4:c.670G>A , LRG_274t1:c.670G>A	NP_000518.1:p.Asp224Asn
NM_001195798.1:c.670G>A	NP_001182727.1:p.Asp224Asn
NM_001195799.1:c.547G>A	NP_001182728.1:p.Asp183Asn
NM_001195800.1:c.314-1816G>A	NP_001182729.1:n.314-1816G>A
NM_001195803.1:c.314-989G>A	NP_001182732.1:n.314-989G>A
XM_011528010.1:c.670G>A	XP_011526312.1:p.Asp224Asn
XM_011528011.1:c.314-989G>A	XP_011526313.1:n.314-989G>A
XR_244074.2:n.820G>A
XM_011528010.2:c.670G>A	XP_011526312.1:p.Asp224Asn
XR_001753685.2:n.787G>A
XR_001753686.2:n.787G>A
NM_000527.5:c.670G>A MANE Select	NP_000518.1:p.Asp224Asn
NM_001195798.2:c.670G>A	NP_001182727.1:p.Asp224Asn
NM_001195799.2:c.547G>A	NP_001182728.1:p.Asp183Asn
NM_001195800.2:c.314-1816G>A	NP_001182729.1:n.314-1816G>A
NM_001195803.2:c.314-989G>A	NP_001182732.1:n.314-989G>A