Canonical Allele Identifier: CA404092785

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11230822C>A (hg19) ; chr19:g.11120146C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120146C>A , CM000681.2:g.11120146C>A	GRCh38
NC_000019.9:g.11230822C>A , CM000681.1:g.11230822C>A	GRCh37
NC_000019.8:g.11091822C>A	NCBI36
NG_009060.1:g.35766C>A , LRG_274:g.35766C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2158C>A	ENSP00000252444.6:p.Leu720Ile
ENST00000559340.2:c.1760C>A	ENSP00000453696.2:p.Pro587His
ENST00000560467.2:c.1780C>A	ENSP00000453513.2:p.Leu594Ile
ENST00000558518.6:c.1900C>A MANE Select	ENSP00000454071.1:p.Leu634Ile
ENST00000252444.9:c.2154C>A
ENST00000455727.6:c.1396C>A	ENSP00000397829.2:p.Leu466Ile
ENST00000535915.5:c.1777C>A	ENSP00000440520.1:p.Leu593Ile
ENST00000545707.5:c.1519C>A	ENSP00000437639.1:p.Leu507Ile
ENST00000557933.5:c.1900C>A	ENSP00000453557.1:p.Leu634Ile
ENST00000558013.5:c.1900C>A	ENSP00000453346.1:p.Leu634Ile
ENST00000558518.5:c.1900C>A	ENSP00000454071.1:p.Leu634Ile
ENST00000559340.1:c.481C>A
NM_000527.4:c.1900C>A , LRG_274t1:c.1900C>A	NP_000518.1:p.Leu634Ile
NM_001195798.1:c.1900C>A	NP_001182727.1:p.Leu634Ile
NM_001195799.1:c.1777C>A	NP_001182728.1:p.Leu593Ile
NM_001195800.1:c.1396C>A	NP_001182729.1:p.Leu466Ile
NM_001195803.1:c.1519C>A	NP_001182732.1:p.Leu507Ile
XM_011528010.1:c.1900C>A	XP_011526312.1:p.Leu634Ile
XM_011528011.1:c.1519C>A	XP_011526313.1:p.Leu507Ile
XR_244074.2:n.1910C>A
XM_011528010.2:c.1900C>A	XP_011526312.1:p.Leu634Ile
XR_001753685.2:n.2017C>A
XR_001753686.2:n.1877C>A
NM_000527.5:c.1900C>A MANE Select	NP_000518.1:p.Leu634Ile
NM_001195798.2:c.1900C>A	NP_001182727.1:p.Leu634Ile
NM_001195799.2:c.1777C>A	NP_001182728.1:p.Leu593Ile
NM_001195800.2:c.1396C>A	NP_001182729.1:p.Leu466Ile
NM_001195803.2:c.1519C>A	NP_001182732.1:p.Leu507Ile