Canonical Allele Identifier: CA404092898

Gene: LDLR

Linked Data

• gnomAD v4: 19-11120161-G-A
• MyVariant Identifiers: chr19:g.11230837G>A (hg19) ; chr19:g.11120161G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120161G>A , CM000681.2:g.11120161G>A	GRCh38
NC_000019.9:g.11230837G>A , CM000681.1:g.11230837G>A	GRCh37
NC_000019.8:g.11091837G>A	NCBI36
NG_009060.1:g.35781G>A , LRG_274:g.35781G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2173G>A	ENSP00000252444.6:p.Val725Ile
ENST00000559340.2:c.1775G>A	ENSP00000453696.2:p.Cys592Tyr
ENST00000560467.2:c.1795G>A	ENSP00000453513.2:p.Val599Ile
ENST00000558518.6:c.1915G>A MANE Select	ENSP00000454071.1:p.Val639Ile
ENST00000252444.9:c.2169G>A
ENST00000455727.6:c.1411G>A	ENSP00000397829.2:p.Val471Ile
ENST00000535915.5:c.1792G>A	ENSP00000440520.1:p.Val598Ile
ENST00000545707.5:c.1534G>A	ENSP00000437639.1:p.Val512Ile
ENST00000557933.5:c.1915G>A	ENSP00000453557.1:p.Val639Ile
ENST00000558013.5:c.1915G>A	ENSP00000453346.1:p.Val639Ile
ENST00000558518.5:c.1915G>A	ENSP00000454071.1:p.Val639Ile
ENST00000559340.1:c.496G>A
NM_000527.4:c.1915G>A , LRG_274t1:c.1915G>A	NP_000518.1:p.Val639Ile
NM_001195798.1:c.1915G>A	NP_001182727.1:p.Val639Ile
NM_001195799.1:c.1792G>A	NP_001182728.1:p.Val598Ile
NM_001195800.1:c.1411G>A	NP_001182729.1:p.Val471Ile
NM_001195803.1:c.1534G>A	NP_001182732.1:p.Val512Ile
XM_011528010.1:c.1915G>A	XP_011526312.1:p.Val639Ile
XM_011528011.1:c.1534G>A	XP_011526313.1:p.Val512Ile
XR_244074.2:n.1925G>A
XM_011528010.2:c.1915G>A	XP_011526312.1:p.Val639Ile
XR_001753685.2:n.2032G>A
XR_001753686.2:n.1892G>A
NM_000527.5:c.1915G>A MANE Select	NP_000518.1:p.Val639Ile
NM_001195798.2:c.1915G>A	NP_001182727.1:p.Val639Ile
NM_001195799.2:c.1792G>A	NP_001182728.1:p.Val598Ile
NM_001195800.2:c.1411G>A	NP_001182729.1:p.Val471Ile
NM_001195803.2:c.1534G>A	NP_001182732.1:p.Val512Ile