Canonical Allele Identifier: CA404085320

Gene: LDLR

Linked Data

• dbSNP Id: rs2077411949
• gnomAD v3: 19-11113434-A-G
• gnomAD v4: 19-11113434-A-G
• MyVariant Identifiers: chr19:g.11224110A>G (hg19) ; chr19:g.11113434A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113434A>G , CM000681.2:g.11113434A>G	GRCh38
NC_000019.9:g.11224110A>G , CM000681.1:g.11224110A>G	GRCh37
NC_000019.8:g.11085110A>G	NCBI36
NG_009060.1:g.29054A>G , LRG_274:g.29054A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1601A>G	ENSP00000252444.6:p.Gln534Arg
ENST00000559340.2:c.1343A>G	ENSP00000453696.2:p.Gln448Arg
ENST00000560467.2:c.1223A>G	ENSP00000453513.2:p.Gln408Arg
ENST00000558518.6:c.1343A>G MANE Select	ENSP00000454071.1:p.Gln448Arg
ENST00000252444.9:c.1597A>G
ENST00000455727.6:c.839A>G	ENSP00000397829.2:p.Gln280Arg
ENST00000535915.5:c.1220A>G	ENSP00000440520.1:p.Gln407Arg
ENST00000545707.5:c.962A>G	ENSP00000437639.1:p.Gln321Arg
ENST00000557933.5:c.1343A>G	ENSP00000453557.1:p.Gln448Arg
ENST00000558013.5:c.1343A>G	ENSP00000453346.1:p.Gln448Arg
ENST00000558518.5:c.1343A>G	ENSP00000454071.1:p.Gln448Arg
ENST00000559340.1:c.64A>G
ENST00000560173.1:n.342A>G
ENST00000560467.1:c.823A>G
NM_000527.4:c.1343A>G , LRG_274t1:c.1343A>G	NP_000518.1:p.Gln448Arg
NM_001195798.1:c.1343A>G	NP_001182727.1:p.Gln448Arg
NM_001195799.1:c.1220A>G	NP_001182728.1:p.Gln407Arg
NM_001195800.1:c.839A>G	NP_001182729.1:p.Gln280Arg
NM_001195803.1:c.962A>G	NP_001182732.1:p.Gln321Arg
XM_011528010.1:c.1343A>G	XP_011526312.1:p.Gln448Arg
XM_011528011.1:c.962A>G	XP_011526313.1:p.Gln321Arg
XR_244074.2:n.1493A>G
XM_011528010.2:c.1343A>G	XP_011526312.1:p.Gln448Arg
XR_001753685.2:n.1460A>G
XR_001753686.2:n.1460A>G
NM_000527.5:c.1343A>G MANE Select	NP_000518.1:p.Gln448Arg
NM_001195798.2:c.1343A>G	NP_001182727.1:p.Gln448Arg
NM_001195799.2:c.1220A>G	NP_001182728.1:p.Gln407Arg
NM_001195800.2:c.839A>G	NP_001182729.1:p.Gln280Arg
NM_001195803.2:c.962A>G	NP_001182732.1:p.Gln321Arg