Canonical Allele Identifier: CA404094741

Gene: LDLR

Linked Data

• dbSNP Id: rs1309617326
• gnomAD v2: 19-11233852-G-A
• MyVariant Identifiers: chr19:g.11233852G>A (hg19) ; chr19:g.11123176G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123176G>A , CM000681.2:g.11123176G>A	GRCh38
NC_000019.9:g.11233852G>A , CM000681.1:g.11233852G>A	GRCh37
NC_000019.8:g.11094852G>A	NCBI36
NG_009060.1:g.38796G>A , LRG_274:g.38796G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2401G>A	ENSP00000252444.6:p.Ala801Thr
ENST00000559340.2:c.*212G>A	ENSP00000453696.2:n.*212G>A
ENST00000560467.2:c.2023G>A	ENSP00000453513.2:p.Ala675Thr
ENST00000558518.6:c.2143G>A MANE Select	ENSP00000454071.1:p.Ala715Thr
ENST00000252444.9:c.2397G>A
ENST00000455727.6:c.1639G>A	ENSP00000397829.2:p.Ala547Thr
ENST00000535915.5:c.2020G>A	ENSP00000440520.1:p.Ala674Thr
ENST00000545707.5:c.1609G>A	ENSP00000437639.1:p.Ala537Thr
ENST00000557933.5:c.2143G>A	ENSP00000453557.1:p.Ala715Thr
ENST00000558013.5:c.2143G>A	ENSP00000453346.1:p.Ala715Thr
ENST00000558518.5:c.2143G>A	ENSP00000454071.1:p.Ala715Thr
NM_000527.4:c.2143G>A , LRG_274t1:c.2143G>A	NP_000518.1:p.Ala715Thr
NM_001195798.1:c.2143G>A	NP_001182727.1:p.Ala715Thr
NM_001195799.1:c.2020G>A	NP_001182728.1:p.Ala674Thr
NM_001195800.1:c.1639G>A	NP_001182729.1:p.Ala547Thr
NM_001195803.1:c.1609G>A	NP_001182732.1:p.Ala537Thr
XM_011528010.1:c.2143G>A	XP_011526312.1:p.Ala715Thr
XM_011528011.1:c.1762G>A	XP_011526313.1:p.Ala588Thr
XR_244074.2:n.2153G>A
XM_011528010.2:c.2143G>A	XP_011526312.1:p.Ala715Thr
XR_001753685.2:n.2477G>A
XR_001753686.2:n.2120G>A
NM_000527.5:c.2143G>A MANE Select	NP_000518.1:p.Ala715Thr
NM_001195798.2:c.2143G>A	NP_001182727.1:p.Ala715Thr
NM_001195799.2:c.2020G>A	NP_001182728.1:p.Ala674Thr
NM_001195800.2:c.1639G>A	NP_001182729.1:p.Ala547Thr
NM_001195803.2:c.1609G>A	NP_001182732.1:p.Ala537Thr