Canonical Allele Identifier: CA404095172

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1171930
• ClinVar RCV Id: RCV001525414
• dbSNP Id: rs2147273100
• MyVariant Identifiers: chr19:g.11233936A>G (hg19) ; chr19:g.11123260A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123260A>G , CM000681.2:g.11123260A>G	GRCh38
NC_000019.9:g.11233936A>G , CM000681.1:g.11233936A>G	GRCh37
NC_000019.8:g.11094936A>G	NCBI36
NG_009060.1:g.38880A>G , LRG_274:g.38880A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2485A>G	ENSP00000252444.6:p.Thr829Ala
ENST00000559340.2:c.*296A>G	ENSP00000453696.2:n.*296A>G
ENST00000560467.2:c.2107A>G	ENSP00000453513.2:p.Thr703Ala
ENST00000558518.6:c.2227A>G MANE Select	ENSP00000454071.1:p.Thr743Ala
ENST00000252444.9:c.2481A>G
ENST00000455727.6:c.1723A>G	ENSP00000397829.2:p.Thr575Ala
ENST00000535915.5:c.2104A>G	ENSP00000440520.1:p.Thr702Ala
ENST00000545707.5:c.1693A>G	ENSP00000437639.1:p.Thr565Ala
ENST00000557933.5:c.2227A>G	ENSP00000453557.1:p.Thr743Ala
ENST00000558013.5:c.2227A>G	ENSP00000453346.1:p.Thr743Ala
ENST00000558518.5:c.2227A>G	ENSP00000454071.1:p.Thr743Ala
NM_000527.4:c.2227A>G , LRG_274t1:c.2227A>G	NP_000518.1:p.Thr743Ala
NM_001195798.1:c.2227A>G	NP_001182727.1:p.Thr743Ala
NM_001195799.1:c.2104A>G	NP_001182728.1:p.Thr702Ala
NM_001195800.1:c.1723A>G	NP_001182729.1:p.Thr575Ala
NM_001195803.1:c.1693A>G	NP_001182732.1:p.Thr565Ala
XM_011528010.1:c.2227A>G	XP_011526312.1:p.Thr743Ala
XM_011528011.1:c.1846A>G	XP_011526313.1:p.Thr616Ala
XR_244074.2:n.2237A>G
XM_011528010.2:c.2227A>G	XP_011526312.1:p.Thr743Ala
XR_001753685.2:n.2561A>G
XR_001753686.2:n.2204A>G
NM_000527.5:c.2227A>G MANE Select	NP_000518.1:p.Thr743Ala
NM_001195798.2:c.2227A>G	NP_001182727.1:p.Thr743Ala
NM_001195799.2:c.2104A>G	NP_001182728.1:p.Thr702Ala
NM_001195800.2:c.1723A>G	NP_001182729.1:p.Thr575Ala
NM_001195803.2:c.1693A>G	NP_001182732.1:p.Thr565Ala