Canonical Allele Identifier: CA404099844

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11240330G>T (hg19) ; chr19:g.11129654G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129654G>T , CM000681.2:g.11129654G>T	GRCh38
NC_000019.9:g.11240330G>T , CM000681.1:g.11240330G>T	GRCh37
NC_000019.8:g.11101330G>T	NCBI36
NG_009060.1:g.45274G>T , LRG_274:g.45274G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2789G>T	ENSP00000252444.6:p.Gly930Val
ENST00000559340.2:c.*600G>T	ENSP00000453696.2:n.*600G>T
ENST00000560467.2:c.2411G>T	ENSP00000453513.2:p.Gly804Val
ENST00000558518.6:c.2531G>T MANE Select	ENSP00000454071.1:p.Gly844Val
ENST00000252444.9:c.2785G>T
ENST00000455727.6:c.2027G>T	ENSP00000397829.2:p.Gly676Val
ENST00000535915.5:c.2408G>T	ENSP00000440520.1:p.Gly803Val
ENST00000545707.5:c.1997G>T	ENSP00000437639.1:p.Gly666Val
ENST00000557933.5:c.2593G>T	ENSP00000453557.1:p.Ala865Ser
ENST00000558013.5:c.2531G>T	ENSP00000453346.1:p.Gly844Val
ENST00000558518.5:c.2531G>T	ENSP00000454071.1:p.Gly844Val
ENST00000560628.1:n.108+2000G>T
NM_000527.4:c.2531G>T , LRG_274t1:c.2531G>T	NP_000518.1:p.Gly844Val
NM_001195798.1:c.2531G>T	NP_001182727.1:p.Gly844Val
NM_001195799.1:c.2408G>T	NP_001182728.1:p.Gly803Val
NM_001195800.1:c.2027G>T	NP_001182729.1:p.Gly676Val
NM_001195803.1:c.1997G>T	NP_001182732.1:p.Gly666Val
XM_011528010.1:c.2453G>T	XP_011526312.1:p.Gly818Val
XM_011528011.1:c.2150G>T	XP_011526313.1:p.Gly717Val
XM_011528010.2:c.2453G>T	XP_011526312.1:p.Gly818Val
XR_001753685.2:n.2865G>T
XR_001753686.2:n.2508G>T
NM_000527.5:c.2531G>T MANE Select	NP_000518.1:p.Gly844Val
NM_001195798.2:c.2531G>T	NP_001182727.1:p.Gly844Val
NM_001195799.2:c.2408G>T	NP_001182728.1:p.Gly803Val
NM_001195800.2:c.2027G>T	NP_001182729.1:p.Gly676Val
NM_001195803.2:c.1997G>T	NP_001182732.1:p.Gly666Val