Canonical Allele Identifier: CA404080990

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11218146C>T (hg19) ; chr19:g.11107470C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107470C>T , CM000681.2:g.11107470C>T	GRCh38
NC_000019.9:g.11218146C>T , CM000681.1:g.11218146C>T	GRCh37
NC_000019.8:g.11079146C>T	NCBI36
NG_009060.1:g.23090C>T , LRG_274:g.23090C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1154C>T	ENSP00000252444.6:p.Ala385Val
ENST00000559340.2:c.896C>T	ENSP00000453696.2:p.Ala299Val
ENST00000560467.2:c.896C>T	ENSP00000453513.2:p.Ala299Val
ENST00000558518.6:c.896C>T MANE Select	ENSP00000454071.1:p.Ala299Val
ENST00000252444.9:c.1150C>T
ENST00000455727.6:c.392C>T	ENSP00000397829.2:p.Ala131Val
ENST00000535915.5:c.773C>T	ENSP00000440520.1:p.Ala258Val
ENST00000545707.5:c.515C>T	ENSP00000437639.1:p.Ala172Val
ENST00000557933.5:c.896C>T	ENSP00000453557.1:p.Ala299Val
ENST00000558013.5:c.896C>T	ENSP00000453346.1:p.Ala299Val
ENST00000558518.5:c.896C>T	ENSP00000454071.1:p.Ala299Val
ENST00000558528.1:n.411C>T
ENST00000560467.1:c.496C>T
NM_000527.4:c.896C>T , LRG_274t1:c.896C>T	NP_000518.1:p.Ala299Val
NM_001195798.1:c.896C>T	NP_001182727.1:p.Ala299Val
NM_001195799.1:c.773C>T	NP_001182728.1:p.Ala258Val
NM_001195800.1:c.392C>T	NP_001182729.1:p.Ala131Val
NM_001195803.1:c.515C>T	NP_001182732.1:p.Ala172Val
XM_011528010.1:c.896C>T	XP_011526312.1:p.Ala299Val
XM_011528011.1:c.515C>T	XP_011526313.1:p.Ala172Val
XR_244074.2:n.1046C>T
XM_011528010.2:c.896C>T	XP_011526312.1:p.Ala299Val
XR_001753685.2:n.1013C>T
XR_001753686.2:n.1013C>T
NM_000527.5:c.896C>T MANE Select	NP_000518.1:p.Ala299Val
NM_001195798.2:c.896C>T	NP_001182727.1:p.Ala299Val
NM_001195799.2:c.773C>T	NP_001182728.1:p.Ala258Val
NM_001195800.2:c.392C>T	NP_001182729.1:p.Ala131Val
NM_001195803.2:c.515C>T	NP_001182732.1:p.Ala172Val