Canonical Allele Identifier: CA040004

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2158306
• ClinVar RCV Id: RCV003069702
• dbSNP Id: rs761123215
• ExAC: 19:11238746 A / G
• gnomAD v2: 19-11238746-A-G
• gnomAD v4: 19-11128070-A-G
• MyVariant Identifiers: chr19:g.11238746A>G (hg19) ; chr19:g.11128070A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128070A>G , CM000681.2:g.11128070A>G	GRCh38
NC_000019.9:g.11238746A>G , CM000681.1:g.11238746A>G	GRCh37
NC_000019.8:g.11099746A>G	NCBI36
NG_009060.1:g.43690A>G , LRG_274:g.43690A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2632A>G	ENSP00000252444.6:p.Ile878Val
ENST00000559340.2:c.*443A>G	ENSP00000453696.2:n.*443A>G
ENST00000560467.2:c.2254A>G	ENSP00000453513.2:p.Ile752Val
ENST00000558518.6:c.2374A>G MANE Select	ENSP00000454071.1:p.Ile792Val
ENST00000252444.9:c.2628A>G
ENST00000455727.6:c.1870A>G	ENSP00000397829.2:p.Ile624Val
ENST00000535915.5:c.2251A>G	ENSP00000440520.1:p.Ile751Val
ENST00000545707.5:c.1840A>G	ENSP00000437639.1:p.Ile614Val
ENST00000557933.5:c.2374A>G	ENSP00000453557.1:p.Ile792Val
ENST00000558013.5:c.2374A>G	ENSP00000453346.1:p.Ile792Val
ENST00000558518.5:c.2374A>G	ENSP00000454071.1:p.Ile792Val
ENST00000560628.1:n.108+416A>G
NM_000527.4:c.2374A>G , LRG_274t1:c.2374A>G	NP_000518.1:p.Ile792Val
NM_001195798.1:c.2374A>G	NP_001182727.1:p.Ile792Val
NM_001195799.1:c.2251A>G	NP_001182728.1:p.Ile751Val
NM_001195800.1:c.1870A>G	NP_001182729.1:p.Ile624Val
NM_001195803.1:c.1840A>G	NP_001182732.1:p.Ile614Val
XM_011528010.1:c.2312-1443A>G	XP_011526312.1:n.2312-1443A>G
XM_011528011.1:c.1993A>G	XP_011526313.1:p.Ile665Val
XR_244074.2:n.2384A>G
XM_011528010.2:c.2312-1443A>G	XP_011526312.1:n.2312-1443A>G
XR_001753685.2:n.2708A>G
XR_001753686.2:n.2351A>G
NM_000527.5:c.2374A>G MANE Select	NP_000518.1:p.Ile792Val
NM_001195798.2:c.2374A>G	NP_001182727.1:p.Ile792Val
NM_001195799.2:c.2251A>G	NP_001182728.1:p.Ile751Val
NM_001195800.2:c.1870A>G	NP_001182729.1:p.Ile624Val
NM_001195803.2:c.1840A>G	NP_001182732.1:p.Ile614Val