Canonical Allele Identifier: CA305305137

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2773527
• ClinVar RCV Id: RCV003582126
• dbSNP Id: rs1016186681
• gnomAD v4: 19-11123261-C-T
• MyVariant Identifiers: chr19:g.11233937C>T (hg19) ; chr19:g.11123261C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123261C>T , CM000681.2:g.11123261C>T	GRCh38
NC_000019.9:g.11233937C>T , CM000681.1:g.11233937C>T	GRCh37
NC_000019.8:g.11094937C>T	NCBI36
NG_009060.1:g.38881C>T , LRG_274:g.38881C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2486C>T	ENSP00000252444.6:p.Thr829Ile
ENST00000559340.2:c.*297C>T	ENSP00000453696.2:n.*297C>T
ENST00000560467.2:c.2108C>T	ENSP00000453513.2:p.Thr703Ile
ENST00000558518.6:c.2228C>T MANE Select	ENSP00000454071.1:p.Thr743Ile
ENST00000252444.9:c.2482C>T
ENST00000455727.6:c.1724C>T	ENSP00000397829.2:p.Thr575Ile
ENST00000535915.5:c.2105C>T	ENSP00000440520.1:p.Thr702Ile
ENST00000545707.5:c.1694C>T	ENSP00000437639.1:p.Thr565Ile
ENST00000557933.5:c.2228C>T	ENSP00000453557.1:p.Thr743Ile
ENST00000558013.5:c.2228C>T	ENSP00000453346.1:p.Thr743Ile
ENST00000558518.5:c.2228C>T	ENSP00000454071.1:p.Thr743Ile
NM_000527.4:c.2228C>T , LRG_274t1:c.2228C>T	NP_000518.1:p.Thr743Ile
NM_001195798.1:c.2228C>T	NP_001182727.1:p.Thr743Ile
NM_001195799.1:c.2105C>T	NP_001182728.1:p.Thr702Ile
NM_001195800.1:c.1724C>T	NP_001182729.1:p.Thr575Ile
NM_001195803.1:c.1694C>T	NP_001182732.1:p.Thr565Ile
XM_011528010.1:c.2228C>T	XP_011526312.1:p.Thr743Ile
XM_011528011.1:c.1847C>T	XP_011526313.1:p.Thr616Ile
XR_244074.2:n.2238C>T
XM_011528010.2:c.2228C>T	XP_011526312.1:p.Thr743Ile
XR_001753685.2:n.2562C>T
XR_001753686.2:n.2205C>T
NM_000527.5:c.2228C>T MANE Select	NP_000518.1:p.Thr743Ile
NM_001195798.2:c.2228C>T	NP_001182727.1:p.Thr743Ile
NM_001195799.2:c.2105C>T	NP_001182728.1:p.Thr702Ile
NM_001195800.2:c.1724C>T	NP_001182729.1:p.Thr575Ile
NM_001195803.2:c.1694C>T	NP_001182732.1:p.Thr565Ile