Canonical Allele Identifier: CA404093290

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11230894C>A (hg19) ; chr19:g.11120218C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120218C>A , CM000681.2:g.11120218C>A	GRCh38
NC_000019.9:g.11230894C>A , CM000681.1:g.11230894C>A	GRCh37
NC_000019.8:g.11091894C>A	NCBI36
NG_009060.1:g.35838C>A , LRG_274:g.35838C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2230C>A	ENSP00000252444.6:p.Leu744Ile
ENST00000559340.2:c.*41C>A	ENSP00000453696.2:n.*41C>A
ENST00000560467.2:c.1852C>A	ENSP00000453513.2:p.Leu618Ile
ENST00000558518.6:c.1972C>A MANE Select	ENSP00000454071.1:p.Leu658Ile
ENST00000252444.9:c.2226C>A
ENST00000455727.6:c.1468C>A	ENSP00000397829.2:p.Leu490Ile
ENST00000535915.5:c.1849C>A	ENSP00000440520.1:p.Leu617Ile
ENST00000545707.5:c.1591C>A	ENSP00000437639.1:p.Leu531Ile
ENST00000557933.5:c.1972C>A	ENSP00000453557.1:p.Leu658Ile
ENST00000558013.5:c.1972C>A	ENSP00000453346.1:p.Leu658Ile
ENST00000558518.5:c.1972C>A	ENSP00000454071.1:p.Leu658Ile
ENST00000559340.1:c.553C>A
NM_000527.4:c.1972C>A , LRG_274t1:c.1972C>A	NP_000518.1:p.Leu658Ile
NM_001195798.1:c.1972C>A	NP_001182727.1:p.Leu658Ile
NM_001195799.1:c.1849C>A	NP_001182728.1:p.Leu617Ile
NM_001195800.1:c.1468C>A	NP_001182729.1:p.Leu490Ile
NM_001195803.1:c.1591C>A	NP_001182732.1:p.Leu531Ile
XM_011528010.1:c.1972C>A	XP_011526312.1:p.Leu658Ile
XM_011528011.1:c.1591C>A	XP_011526313.1:p.Leu531Ile
XR_244074.2:n.1982C>A
XM_011528010.2:c.1972C>A	XP_011526312.1:p.Leu658Ile
XR_001753685.2:n.2089C>A
XR_001753686.2:n.1949C>A
NM_000527.5:c.1972C>A MANE Select	NP_000518.1:p.Leu658Ile
NM_001195798.2:c.1972C>A	NP_001182727.1:p.Leu658Ile
NM_001195799.2:c.1849C>A	NP_001182728.1:p.Leu617Ile
NM_001195800.2:c.1468C>A	NP_001182729.1:p.Leu490Ile
NM_001195803.2:c.1591C>A	NP_001182732.1:p.Leu531Ile