Canonical Allele Identifier: CA404092887

Gene: LDLR

Linked Data

• gnomAD v4: 19-11120160-T-G
• MyVariant Identifiers: chr19:g.11230836T>G (hg19) ; chr19:g.11120160T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120160T>G , CM000681.2:g.11120160T>G	GRCh38
NC_000019.9:g.11230836T>G , CM000681.1:g.11230836T>G	GRCh37
NC_000019.8:g.11091836T>G	NCBI36
NG_009060.1:g.35780T>G , LRG_274:g.35780T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2172T>G	ENSP00000252444.6:p.Asp724Glu
ENST00000559340.2:c.1774T>G	ENSP00000453696.2:p.Cys592Gly
ENST00000560467.2:c.1794T>G	ENSP00000453513.2:p.Asp598Glu
ENST00000558518.6:c.1914T>G MANE Select	ENSP00000454071.1:p.Asp638Glu
ENST00000252444.9:c.2168T>G
ENST00000455727.6:c.1410T>G	ENSP00000397829.2:p.Asp470Glu
ENST00000535915.5:c.1791T>G	ENSP00000440520.1:p.Asp597Glu
ENST00000545707.5:c.1533T>G	ENSP00000437639.1:p.Asp511Glu
ENST00000557933.5:c.1914T>G	ENSP00000453557.1:p.Asp638Glu
ENST00000558013.5:c.1914T>G	ENSP00000453346.1:p.Asp638Glu
ENST00000558518.5:c.1914T>G	ENSP00000454071.1:p.Asp638Glu
ENST00000559340.1:c.495T>G
NM_000527.4:c.1914T>G , LRG_274t1:c.1914T>G	NP_000518.1:p.Asp638Glu
NM_001195798.1:c.1914T>G	NP_001182727.1:p.Asp638Glu
NM_001195799.1:c.1791T>G	NP_001182728.1:p.Asp597Glu
NM_001195800.1:c.1410T>G	NP_001182729.1:p.Asp470Glu
NM_001195803.1:c.1533T>G	NP_001182732.1:p.Asp511Glu
XM_011528010.1:c.1914T>G	XP_011526312.1:p.Asp638Glu
XM_011528011.1:c.1533T>G	XP_011526313.1:p.Asp511Glu
XR_244074.2:n.1924T>G
XM_011528010.2:c.1914T>G	XP_011526312.1:p.Asp638Glu
XR_001753685.2:n.2031T>G
XR_001753686.2:n.1891T>G
NM_000527.5:c.1914T>G MANE Select	NP_000518.1:p.Asp638Glu
NM_001195798.2:c.1914T>G	NP_001182727.1:p.Asp638Glu
NM_001195799.2:c.1791T>G	NP_001182728.1:p.Asp597Glu
NM_001195800.2:c.1410T>G	NP_001182729.1:p.Asp470Glu
NM_001195803.2:c.1533T>G	NP_001182732.1:p.Asp511Glu