Canonical Allele Identifier: CA404085022

Gene: LDLR

Linked Data

• gnomAD v4: 19-11113389-A-G
• MyVariant Identifiers: chr19:g.11224065A>G (hg19) ; chr19:g.11113389A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113389A>G , CM000681.2:g.11113389A>G	GRCh38
NC_000019.9:g.11224065A>G , CM000681.1:g.11224065A>G	GRCh37
NC_000019.8:g.11085065A>G	NCBI36
NG_009060.1:g.29009A>G , LRG_274:g.29009A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1556A>G	ENSP00000252444.6:p.Asp519Gly
ENST00000559340.2:c.1298A>G	ENSP00000453696.2:p.Asp433Gly
ENST00000560467.2:c.1178A>G	ENSP00000453513.2:p.Asp393Gly
ENST00000558518.6:c.1298A>G MANE Select	ENSP00000454071.1:p.Asp433Gly
ENST00000252444.9:c.1552A>G
ENST00000455727.6:c.794A>G	ENSP00000397829.2:p.Asp265Gly
ENST00000535915.5:c.1175A>G	ENSP00000440520.1:p.Asp392Gly
ENST00000545707.5:c.917A>G	ENSP00000437639.1:p.Asp306Gly
ENST00000557933.5:c.1298A>G	ENSP00000453557.1:p.Asp433Gly
ENST00000558013.5:c.1298A>G	ENSP00000453346.1:p.Asp433Gly
ENST00000558518.5:c.1298A>G	ENSP00000454071.1:p.Asp433Gly
ENST00000559340.1:c.19A>G
ENST00000560173.1:n.297A>G
ENST00000560467.1:c.778A>G
NM_000527.4:c.1298A>G , LRG_274t1:c.1298A>G	NP_000518.1:p.Asp433Gly
NM_001195798.1:c.1298A>G	NP_001182727.1:p.Asp433Gly
NM_001195799.1:c.1175A>G	NP_001182728.1:p.Asp392Gly
NM_001195800.1:c.794A>G	NP_001182729.1:p.Asp265Gly
NM_001195803.1:c.917A>G	NP_001182732.1:p.Asp306Gly
XM_011528010.1:c.1298A>G	XP_011526312.1:p.Asp433Gly
XM_011528011.1:c.917A>G	XP_011526313.1:p.Asp306Gly
XR_244074.2:n.1448A>G
XM_011528010.2:c.1298A>G	XP_011526312.1:p.Asp433Gly
XR_001753685.2:n.1415A>G
XR_001753686.2:n.1415A>G
NM_000527.5:c.1298A>G MANE Select	NP_000518.1:p.Asp433Gly
NM_001195798.2:c.1298A>G	NP_001182727.1:p.Asp433Gly
NM_001195799.2:c.1175A>G	NP_001182728.1:p.Asp392Gly
NM_001195800.2:c.794A>G	NP_001182729.1:p.Asp265Gly
NM_001195803.2:c.917A>G	NP_001182732.1:p.Asp306Gly