Canonical Allele Identifier: CA305302641

Gene: LDLR

Linked Data

• ClinVar Variation Id: 3070360
• ClinVar RCV Id: RCV004011878
• dbSNP Id: rs146559461
• gnomAD v3: 19-11120151-A-G
• gnomAD v4: 19-11120151-A-G
• MyVariant Identifiers: chr19:g.11230827A>G (hg19) ; chr19:g.11120151A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120151A>G , CM000681.2:g.11120151A>G	GRCh38
NC_000019.9:g.11230827A>G , CM000681.1:g.11230827A>G	GRCh37
NC_000019.8:g.11091827A>G	NCBI36
NG_009060.1:g.35771A>G , LRG_274:g.35771A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2163A>G	ENSP00000252444.6:p.Thr721=
ENST00000559340.2:c.1765A>G	ENSP00000453696.2:p.Arg589Gly
ENST00000560467.2:c.1785A>G	ENSP00000453513.2:p.Thr595=
ENST00000558518.6:c.1905A>G MANE Select	ENSP00000454071.1:p.Thr635=
ENST00000252444.9:c.2159A>G
ENST00000455727.6:c.1401A>G	ENSP00000397829.2:p.Thr467=
ENST00000535915.5:c.1782A>G	ENSP00000440520.1:p.Thr594=
ENST00000545707.5:c.1524A>G	ENSP00000437639.1:p.Thr508=
ENST00000557933.5:c.1905A>G	ENSP00000453557.1:p.Thr635=
ENST00000558013.5:c.1905A>G	ENSP00000453346.1:p.Thr635=
ENST00000558518.5:c.1905A>G	ENSP00000454071.1:p.Thr635=
ENST00000559340.1:c.486A>G
NM_000527.4:c.1905A>G , LRG_274t1:c.1905A>G	NP_000518.1:p.Thr635=
NM_001195798.1:c.1905A>G	NP_001182727.1:p.Thr635=
NM_001195799.1:c.1782A>G	NP_001182728.1:p.Thr594=
NM_001195800.1:c.1401A>G	NP_001182729.1:p.Thr467=
NM_001195803.1:c.1524A>G	NP_001182732.1:p.Thr508=
XM_011528010.1:c.1905A>G	XP_011526312.1:p.Thr635=
XM_011528011.1:c.1524A>G	XP_011526313.1:p.Thr508=
XR_244074.2:n.1915A>G
XM_011528010.2:c.1905A>G	XP_011526312.1:p.Thr635=
XR_001753685.2:n.2022A>G
XR_001753686.2:n.1882A>G
NM_000527.5:c.1905A>G MANE Select	NP_000518.1:p.Thr635=
NM_001195798.2:c.1905A>G	NP_001182727.1:p.Thr635=
NM_001195799.2:c.1782A>G	NP_001182728.1:p.Thr594=
NM_001195800.2:c.1401A>G	NP_001182729.1:p.Thr467=
NM_001195803.2:c.1524A>G	NP_001182732.1:p.Thr508=