Canonical Allele Identifier: CA036727

Gene: LDLR

Linked Data

• ClinVar Variation Id: 3071281
• ClinVar RCV Id: RCV004014783
• dbSNP Id: rs753707206
• ExAC: 19:11227630 G / A
• gnomAD v2: 19-11227630-G-A
• gnomAD v4: 19-11116954-G-A
• MyVariant Identifiers: chr19:g.11227630G>A (hg19) ; chr19:g.11116954G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116954G>A , CM000681.2:g.11116954G>A	GRCh38
NC_000019.9:g.11227630G>A , CM000681.1:g.11227630G>A	GRCh37
NC_000019.8:g.11088630G>A	NCBI36
NG_009060.1:g.32574G>A , LRG_274:g.32574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2059G>A	ENSP00000252444.6:p.Asp687Asn
ENST00000559340.2:c.1705+742G>A	ENSP00000453696.2:n.1705+742G>A
ENST00000560467.2:c.1681G>A	ENSP00000453513.2:p.Asp561Asn
ENST00000558518.6:c.1801G>A MANE Select	ENSP00000454071.1:p.Asp601Asn
ENST00000252444.9:c.2055G>A
ENST00000455727.6:c.1297G>A	ENSP00000397829.2:p.Asp433Asn
ENST00000535915.5:c.1678G>A	ENSP00000440520.1:p.Asp560Asn
ENST00000545707.5:c.1420G>A	ENSP00000437639.1:p.Asp474Asn
ENST00000557933.5:c.1801G>A	ENSP00000453557.1:p.Asp601Asn
ENST00000558013.5:c.1801G>A	ENSP00000453346.1:p.Asp601Asn
ENST00000558518.5:c.1801G>A	ENSP00000454071.1:p.Asp601Asn
ENST00000559340.1:c.426+742G>A
NM_000527.4:c.1801G>A , LRG_274t1:c.1801G>A	NP_000518.1:p.Asp601Asn
NM_001195798.1:c.1801G>A	NP_001182727.1:p.Asp601Asn
NM_001195799.1:c.1678G>A	NP_001182728.1:p.Asp560Asn
NM_001195800.1:c.1297G>A	NP_001182729.1:p.Asp433Asn
NM_001195803.1:c.1420G>A	NP_001182732.1:p.Asp474Asn
XM_011528010.1:c.1801G>A	XP_011526312.1:p.Asp601Asn
XM_011528011.1:c.1420G>A	XP_011526313.1:p.Asp474Asn
XR_244074.2:n.1855+742G>A
XM_011528010.2:c.1801G>A	XP_011526312.1:p.Asp601Asn
XR_001753685.2:n.1918G>A
XR_001753686.2:n.1822+742G>A
NM_000527.5:c.1801G>A MANE Select	NP_000518.1:p.Asp601Asn
NM_001195798.2:c.1801G>A	NP_001182727.1:p.Asp601Asn
NM_001195799.2:c.1678G>A	NP_001182728.1:p.Asp560Asn
NM_001195800.2:c.1297G>A	NP_001182729.1:p.Asp433Asn
NM_001195803.2:c.1420G>A	NP_001182732.1:p.Asp474Asn