Canonical Allele Identifier: CA404094899

Gene: LDLR

Linked Data

• gnomAD v4: 19-11123218-C-G
• MyVariant Identifiers: chr19:g.11233894C>G (hg19) ; chr19:g.11123218C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123218C>G , CM000681.2:g.11123218C>G	GRCh38
NC_000019.9:g.11233894C>G , CM000681.1:g.11233894C>G	GRCh37
NC_000019.8:g.11094894C>G	NCBI36
NG_009060.1:g.38838C>G , LRG_274:g.38838C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2443C>G	ENSP00000252444.6:p.Leu815Val
ENST00000559340.2:c.*254C>G	ENSP00000453696.2:n.*254C>G
ENST00000560467.2:c.2065C>G	ENSP00000453513.2:p.Leu689Val
ENST00000558518.6:c.2185C>G MANE Select	ENSP00000454071.1:p.Leu729Val
ENST00000252444.9:c.2439C>G
ENST00000455727.6:c.1681C>G	ENSP00000397829.2:p.Leu561Val
ENST00000535915.5:c.2062C>G	ENSP00000440520.1:p.Leu688Val
ENST00000545707.5:c.1651C>G	ENSP00000437639.1:p.Leu551Val
ENST00000557933.5:c.2185C>G	ENSP00000453557.1:p.Leu729Val
ENST00000558013.5:c.2185C>G	ENSP00000453346.1:p.Leu729Val
ENST00000558518.5:c.2185C>G	ENSP00000454071.1:p.Leu729Val
NM_000527.4:c.2185C>G , LRG_274t1:c.2185C>G	NP_000518.1:p.Leu729Val
NM_001195798.1:c.2185C>G	NP_001182727.1:p.Leu729Val
NM_001195799.1:c.2062C>G	NP_001182728.1:p.Leu688Val
NM_001195800.1:c.1681C>G	NP_001182729.1:p.Leu561Val
NM_001195803.1:c.1651C>G	NP_001182732.1:p.Leu551Val
XM_011528010.1:c.2185C>G	XP_011526312.1:p.Leu729Val
XM_011528011.1:c.1804C>G	XP_011526313.1:p.Leu602Val
XR_244074.2:n.2195C>G
XM_011528010.2:c.2185C>G	XP_011526312.1:p.Leu729Val
XR_001753685.2:n.2519C>G
XR_001753686.2:n.2162C>G
NM_000527.5:c.2185C>G MANE Select	NP_000518.1:p.Leu729Val
NM_001195798.2:c.2185C>G	NP_001182727.1:p.Leu729Val
NM_001195799.2:c.2062C>G	NP_001182728.1:p.Leu688Val
NM_001195800.2:c.1681C>G	NP_001182729.1:p.Leu561Val
NM_001195803.2:c.1651C>G	NP_001182732.1:p.Leu551Val