Canonical Allele Identifier: CA505743444

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11231050G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120374G>A , CM000681.2:g.11120374G>A	GRCh38
NC_000019.9:g.11231050G>A , CM000681.1:g.11231050G>A	GRCh37
NC_000019.8:g.11092050G>A	NCBI36
NG_009060.1:g.35994G>A , LRG_274:g.35994G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2250G>A	ENSP00000252444.6:p.Val750=
ENST00000559340.2:c.*61G>A	ENSP00000453696.2:n.*61G>A
ENST00000560467.2:c.1872G>A	ENSP00000453513.2:p.Val624=
ENST00000558518.6:c.1992G>A MANE Select	ENSP00000454071.1:p.Val664=
ENST00000252444.9:c.2246G>A
ENST00000455727.6:c.1488G>A	ENSP00000397829.2:p.Val496=
ENST00000535915.5:c.1869G>A	ENSP00000440520.1:p.Val623=
ENST00000545707.5:c.1606+141G>A	ENSP00000437639.1:n.1606+141G>A
ENST00000557933.5:c.1992G>A	ENSP00000453557.1:p.Val664=
ENST00000558013.5:c.1992G>A	ENSP00000453346.1:p.Val664=
ENST00000558518.5:c.1992G>A	ENSP00000454071.1:p.Val664=
ENST00000559340.1:c.573G>A
NM_000527.4:c.1992G>A , LRG_274t1:c.1992G>A	NP_000518.1:p.Val664=
NM_001195798.1:c.1992G>A	NP_001182727.1:p.Val664=
NM_001195799.1:c.1869G>A	NP_001182728.1:p.Val623=
NM_001195800.1:c.1488G>A	NP_001182729.1:p.Val496=
NM_001195803.1:c.1606+141G>A	NP_001182732.1:n.1606+141G>A
XM_011528010.1:c.1992G>A	XP_011526312.1:p.Val664=
XM_011528011.1:c.1611G>A	XP_011526313.1:p.Val537=
XR_244074.2:n.2002G>A
XM_011528010.2:c.1992G>A	XP_011526312.1:p.Val664=
XR_001753685.2:n.2109G>A
XR_001753686.2:n.1969G>A
NM_000527.5:c.1992G>A MANE Select	NP_000518.1:p.Val664=
NM_001195798.2:c.1992G>A	NP_001182727.1:p.Val664=
NM_001195799.2:c.1869G>A	NP_001182728.1:p.Val623=
NM_001195800.2:c.1488G>A	NP_001182729.1:p.Val496=
NM_001195803.2:c.1606+141G>A	NP_001182732.1:n.1606+141G>A