Canonical Allele Identifier: CA404099408

Gene: LDLR

Linked Data

• gnomAD v4: 19-11129614-A-G
• MyVariant Identifiers: chr19:g.11240290A>G (hg19) ; chr19:g.11129614A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129614A>G , CM000681.2:g.11129614A>G	GRCh38
NC_000019.9:g.11240290A>G , CM000681.1:g.11240290A>G	GRCh37
NC_000019.8:g.11101290A>G	NCBI36
NG_009060.1:g.45234A>G , LRG_274:g.45234A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2749A>G	ENSP00000252444.6:p.Thr917Ala
ENST00000559340.2:c.*560A>G	ENSP00000453696.2:n.*560A>G
ENST00000560467.2:c.2371A>G	ENSP00000453513.2:p.Thr791Ala
ENST00000558518.6:c.2491A>G MANE Select	ENSP00000454071.1:p.Thr831Ala
ENST00000252444.9:c.2745A>G
ENST00000455727.6:c.1987A>G	ENSP00000397829.2:p.Thr663Ala
ENST00000535915.5:c.2368A>G	ENSP00000440520.1:p.Thr790Ala
ENST00000545707.5:c.1957A>G	ENSP00000437639.1:p.Thr653Ala
ENST00000557933.5:c.2553A>G	ENSP00000453557.1:p.Arg851=
ENST00000558013.5:c.2491A>G	ENSP00000453346.1:p.Thr831Ala
ENST00000558518.5:c.2491A>G	ENSP00000454071.1:p.Thr831Ala
ENST00000560628.1:n.108+1960A>G
NM_000527.4:c.2491A>G , LRG_274t1:c.2491A>G	NP_000518.1:p.Thr831Ala
NM_001195798.1:c.2491A>G	NP_001182727.1:p.Thr831Ala
NM_001195799.1:c.2368A>G	NP_001182728.1:p.Thr790Ala
NM_001195800.1:c.1987A>G	NP_001182729.1:p.Thr663Ala
NM_001195803.1:c.1957A>G	NP_001182732.1:p.Thr653Ala
XM_011528010.1:c.2413A>G	XP_011526312.1:p.Thr805Ala
XM_011528011.1:c.2110A>G	XP_011526313.1:p.Thr704Ala
XM_011528010.2:c.2413A>G	XP_011526312.1:p.Thr805Ala
XR_001753685.2:n.2825A>G
XR_001753686.2:n.2468A>G
NM_000527.5:c.2491A>G MANE Select	NP_000518.1:p.Thr831Ala
NM_001195798.2:c.2491A>G	NP_001182727.1:p.Thr831Ala
NM_001195799.2:c.2368A>G	NP_001182728.1:p.Thr790Ala
NM_001195800.2:c.1987A>G	NP_001182729.1:p.Thr663Ala
NM_001195803.2:c.1957A>G	NP_001182732.1:p.Thr653Ala