Canonical Allele Identifier: CA505485388

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11221410C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110734C>A , CM000681.2:g.11110734C>A	GRCh38
NC_000019.9:g.11221410C>A , CM000681.1:g.11221410C>A	GRCh37
NC_000019.8:g.11082410C>A	NCBI36
NG_009060.1:g.26354C>A , LRG_274:g.26354C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1281C>A	ENSP00000252444.6:p.Pro427=
ENST00000559340.2:c.1023C>A	ENSP00000453696.2:p.Pro341=
ENST00000560467.2:c.941-780C>A	ENSP00000453513.2:n.941-780C>A
ENST00000558518.6:c.1023C>A MANE Select	ENSP00000454071.1:p.Pro341=
ENST00000252444.9:c.1277C>A
ENST00000455727.6:c.519C>A	ENSP00000397829.2:p.Pro173=
ENST00000535915.5:c.900C>A	ENSP00000440520.1:p.Pro300=
ENST00000545707.5:c.642C>A	ENSP00000437639.1:p.Pro214=
ENST00000557933.5:c.1023C>A	ENSP00000453557.1:p.Pro341=
ENST00000558013.5:c.1023C>A	ENSP00000453346.1:p.Pro341=
ENST00000558518.5:c.1023C>A	ENSP00000454071.1:p.Pro341=
ENST00000560173.1:n.22C>A
ENST00000560467.1:c.541-780C>A
NM_000527.4:c.1023C>A , LRG_274t1:c.1023C>A	NP_000518.1:p.Pro341=
NM_001195798.1:c.1023C>A	NP_001182727.1:p.Pro341=
NM_001195799.1:c.900C>A	NP_001182728.1:p.Pro300=
NM_001195800.1:c.519C>A	NP_001182729.1:p.Pro173=
NM_001195803.1:c.642C>A	NP_001182732.1:p.Pro214=
XM_011528010.1:c.1023C>A	XP_011526312.1:p.Pro341=
XM_011528011.1:c.642C>A	XP_011526313.1:p.Pro214=
XR_244074.2:n.1173C>A
XM_011528010.2:c.1023C>A	XP_011526312.1:p.Pro341=
XR_001753685.2:n.1140C>A
XR_001753686.2:n.1140C>A
NM_000527.5:c.1023C>A MANE Select	NP_000518.1:p.Pro341=
NM_001195798.2:c.1023C>A	NP_001182727.1:p.Pro341=
NM_001195799.2:c.900C>A	NP_001182728.1:p.Pro300=
NM_001195800.2:c.519C>A	NP_001182729.1:p.Pro173=
NM_001195803.2:c.642C>A	NP_001182732.1:p.Pro214=