Canonical Allele Identifier: CA505743244

Gene: LDLR

Linked Data

• ClinVar Variation Id: 919497
• ClinVar RCV Id: RCV001177732
• dbSNP Id: rs558238642
• gnomAD v4: 19-11113649-C-G
• MyVariant Identifiers: chr19:g.11224325C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113649C>G , CM000681.2:g.11113649C>G	GRCh38
NC_000019.9:g.11224325C>G , CM000681.1:g.11224325C>G	GRCh37
NC_000019.8:g.11085325C>G	NCBI36
NG_009060.1:g.29269C>G , LRG_274:g.29269C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1731C>G	ENSP00000252444.6:p.Thr577=
ENST00000559340.2:c.1473C>G	ENSP00000453696.2:p.Thr491=
ENST00000560467.2:c.1353C>G	ENSP00000453513.2:p.Thr451=
ENST00000558518.6:c.1473C>G MANE Select	ENSP00000454071.1:p.Thr491=
ENST00000252444.9:c.1727C>G
ENST00000455727.6:c.969C>G	ENSP00000397829.2:p.Thr323=
ENST00000535915.5:c.1350C>G	ENSP00000440520.1:p.Thr450=
ENST00000545707.5:c.1092C>G	ENSP00000437639.1:p.Thr364=
ENST00000557933.5:c.1473C>G	ENSP00000453557.1:p.Thr491=
ENST00000558013.5:c.1473C>G	ENSP00000453346.1:p.Thr491=
ENST00000558518.5:c.1473C>G	ENSP00000454071.1:p.Thr491=
ENST00000559340.1:c.194C>G
NM_000527.4:c.1473C>G , LRG_274t1:c.1473C>G	NP_000518.1:p.Thr491=
NM_001195798.1:c.1473C>G	NP_001182727.1:p.Thr491=
NM_001195799.1:c.1350C>G	NP_001182728.1:p.Thr450=
NM_001195800.1:c.969C>G	NP_001182729.1:p.Thr323=
NM_001195803.1:c.1092C>G	NP_001182732.1:p.Thr364=
XM_011528010.1:c.1473C>G	XP_011526312.1:p.Thr491=
XM_011528011.1:c.1092C>G	XP_011526313.1:p.Thr364=
XR_244074.2:n.1623C>G
XM_011528010.2:c.1473C>G	XP_011526312.1:p.Thr491=
XR_001753685.2:n.1590C>G
XR_001753686.2:n.1590C>G
NM_000527.5:c.1473C>G MANE Select	NP_000518.1:p.Thr491=
NM_001195798.2:c.1473C>G	NP_001182727.1:p.Thr491=
NM_001195799.2:c.1350C>G	NP_001182728.1:p.Thr450=
NM_001195800.2:c.969C>G	NP_001182729.1:p.Thr323=
NM_001195803.2:c.1092C>G	NP_001182732.1:p.Thr364=