Canonical Allele Identifier: CA404084992

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2749132
• ClinVar RCV Id: RCV003582813
• MyVariant Identifiers: chr19:g.11224059C>G (hg19) ; chr19:g.11113383C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113383C>G , CM000681.2:g.11113383C>G	GRCh38
NC_000019.9:g.11224059C>G , CM000681.1:g.11224059C>G	GRCh37
NC_000019.8:g.11085059C>G	NCBI36
NG_009060.1:g.29003C>G , LRG_274:g.29003C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1550C>G	ENSP00000252444.6:p.Ala517Gly
ENST00000559340.2:c.1292C>G	ENSP00000453696.2:p.Ala431Gly
ENST00000560467.2:c.1172C>G	ENSP00000453513.2:p.Ala391Gly
ENST00000558518.6:c.1292C>G MANE Select	ENSP00000454071.1:p.Ala431Gly
ENST00000252444.9:c.1546C>G
ENST00000455727.6:c.788C>G	ENSP00000397829.2:p.Ala263Gly
ENST00000535915.5:c.1169C>G	ENSP00000440520.1:p.Ala390Gly
ENST00000545707.5:c.911C>G	ENSP00000437639.1:p.Ala304Gly
ENST00000557933.5:c.1292C>G	ENSP00000453557.1:p.Ala431Gly
ENST00000558013.5:c.1292C>G	ENSP00000453346.1:p.Ala431Gly
ENST00000558518.5:c.1292C>G	ENSP00000454071.1:p.Ala431Gly
ENST00000559340.1:c.13C>G
ENST00000560173.1:n.291C>G
ENST00000560467.1:c.772C>G
NM_000527.4:c.1292C>G , LRG_274t1:c.1292C>G	NP_000518.1:p.Ala431Gly
NM_001195798.1:c.1292C>G	NP_001182727.1:p.Ala431Gly
NM_001195799.1:c.1169C>G	NP_001182728.1:p.Ala390Gly
NM_001195800.1:c.788C>G	NP_001182729.1:p.Ala263Gly
NM_001195803.1:c.911C>G	NP_001182732.1:p.Ala304Gly
XM_011528010.1:c.1292C>G	XP_011526312.1:p.Ala431Gly
XM_011528011.1:c.911C>G	XP_011526313.1:p.Ala304Gly
XR_244074.2:n.1442C>G
XM_011528010.2:c.1292C>G	XP_011526312.1:p.Ala431Gly
XR_001753685.2:n.1409C>G
XR_001753686.2:n.1409C>G
NM_000527.5:c.1292C>G MANE Select	NP_000518.1:p.Ala431Gly
NM_001195798.2:c.1292C>G	NP_001182727.1:p.Ala431Gly
NM_001195799.2:c.1169C>G	NP_001182728.1:p.Ala390Gly
NM_001195800.2:c.788C>G	NP_001182729.1:p.Ala263Gly
NM_001195803.2:c.911C>G	NP_001182732.1:p.Ala304Gly