Canonical Allele Identifier: CA305300090

Gene: LDLR

Linked Data

• dbSNP Id: rs754389826
• gnomAD v2: 19-11224212-A-G
• gnomAD v3: 19-11113536-A-G
• gnomAD v4: 19-11113536-A-G
• MyVariant Identifiers: chr19:g.11224212A>G (hg19) ; chr19:g.11113536A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113536A>G , CM000681.2:g.11113536A>G	GRCh38
NC_000019.9:g.11224212A>G , CM000681.1:g.11224212A>G	GRCh37
NC_000019.8:g.11085212A>G	NCBI36
NG_009060.1:g.29156A>G , LRG_274:g.29156A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1618A>G	ENSP00000252444.6:p.Thr540Ala
ENST00000559340.2:c.1360A>G	ENSP00000453696.2:p.Thr454Ala
ENST00000560467.2:c.1240A>G	ENSP00000453513.2:p.Thr414Ala
ENST00000558518.6:c.1360A>G MANE Select	ENSP00000454071.1:p.Thr454Ala
ENST00000252444.9:c.1614A>G
ENST00000455727.6:c.856A>G	ENSP00000397829.2:p.Thr286Ala
ENST00000535915.5:c.1237A>G	ENSP00000440520.1:p.Thr413Ala
ENST00000545707.5:c.979A>G	ENSP00000437639.1:p.Thr327Ala
ENST00000557933.5:c.1360A>G	ENSP00000453557.1:p.Thr454Ala
ENST00000558013.5:c.1360A>G	ENSP00000453346.1:p.Thr454Ala
ENST00000558518.5:c.1360A>G	ENSP00000454071.1:p.Thr454Ala
ENST00000559340.1:c.81A>G
ENST00000560467.1:c.840A>G
NM_000527.4:c.1360A>G , LRG_274t1:c.1360A>G	NP_000518.1:p.Thr454Ala
NM_001195798.1:c.1360A>G	NP_001182727.1:p.Thr454Ala
NM_001195799.1:c.1237A>G	NP_001182728.1:p.Thr413Ala
NM_001195800.1:c.856A>G	NP_001182729.1:p.Thr286Ala
NM_001195803.1:c.979A>G	NP_001182732.1:p.Thr327Ala
XM_011528010.1:c.1360A>G	XP_011526312.1:p.Thr454Ala
XM_011528011.1:c.979A>G	XP_011526313.1:p.Thr327Ala
XR_244074.2:n.1510A>G
XM_011528010.2:c.1360A>G	XP_011526312.1:p.Thr454Ala
XR_001753685.2:n.1477A>G
XR_001753686.2:n.1477A>G
NM_000527.5:c.1360A>G MANE Select	NP_000518.1:p.Thr454Ala
NM_001195798.2:c.1360A>G	NP_001182727.1:p.Thr454Ala
NM_001195799.2:c.1237A>G	NP_001182728.1:p.Thr413Ala
NM_001195800.2:c.856A>G	NP_001182729.1:p.Thr286Ala
NM_001195803.2:c.979A>G	NP_001182732.1:p.Thr327Ala