Canonical Allele Identifier: CA404095149

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11233931C>T (hg19) ; chr19:g.11123255C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123255C>T , CM000681.2:g.11123255C>T	GRCh38
NC_000019.9:g.11233931C>T , CM000681.1:g.11233931C>T	GRCh37
NC_000019.8:g.11094931C>T	NCBI36
NG_009060.1:g.38875C>T , LRG_274:g.38875C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2480C>T	ENSP00000252444.6:p.Thr827Ile
ENST00000559340.2:c.*291C>T	ENSP00000453696.2:n.*291C>T
ENST00000560467.2:c.2102C>T	ENSP00000453513.2:p.Thr701Ile
ENST00000558518.6:c.2222C>T MANE Select	ENSP00000454071.1:p.Thr741Ile
ENST00000252444.9:c.2476C>T
ENST00000455727.6:c.1718C>T	ENSP00000397829.2:p.Thr573Ile
ENST00000535915.5:c.2099C>T	ENSP00000440520.1:p.Thr700Ile
ENST00000545707.5:c.1688C>T	ENSP00000437639.1:p.Thr563Ile
ENST00000557933.5:c.2222C>T	ENSP00000453557.1:p.Thr741Ile
ENST00000558013.5:c.2222C>T	ENSP00000453346.1:p.Thr741Ile
ENST00000558518.5:c.2222C>T	ENSP00000454071.1:p.Thr741Ile
NM_000527.4:c.2222C>T , LRG_274t1:c.2222C>T	NP_000518.1:p.Thr741Ile
NM_001195798.1:c.2222C>T	NP_001182727.1:p.Thr741Ile
NM_001195799.1:c.2099C>T	NP_001182728.1:p.Thr700Ile
NM_001195800.1:c.1718C>T	NP_001182729.1:p.Thr573Ile
NM_001195803.1:c.1688C>T	NP_001182732.1:p.Thr563Ile
XM_011528010.1:c.2222C>T	XP_011526312.1:p.Thr741Ile
XM_011528011.1:c.1841C>T	XP_011526313.1:p.Thr614Ile
XR_244074.2:n.2232C>T
XM_011528010.2:c.2222C>T	XP_011526312.1:p.Thr741Ile
XR_001753685.2:n.2556C>T
XR_001753686.2:n.2199C>T
NM_000527.5:c.2222C>T MANE Select	NP_000518.1:p.Thr741Ile
NM_001195798.2:c.2222C>T	NP_001182727.1:p.Thr741Ile
NM_001195799.2:c.2099C>T	NP_001182728.1:p.Thr700Ile
NM_001195800.2:c.1718C>T	NP_001182729.1:p.Thr573Ile
NM_001195803.2:c.1688C>T	NP_001182732.1:p.Thr563Ile