Canonical Allele Identifier: CA404095170

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11233936A>C (hg19) ; chr19:g.11123260A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2485A>C	ENSP00000252444.6:p.Thr829Pro
ENST00000559340.2:c.*296A>C	ENSP00000453696.2:n.*296A>C
ENST00000560467.2:c.2107A>C	ENSP00000453513.2:p.Thr703Pro
ENST00000558518.6:c.2227A>C MANE Select	ENSP00000454071.1:p.Thr743Pro
ENST00000252444.9:c.2481A>C
ENST00000455727.6:c.1723A>C	ENSP00000397829.2:p.Thr575Pro
ENST00000535915.5:c.2104A>C	ENSP00000440520.1:p.Thr702Pro
ENST00000545707.5:c.1693A>C	ENSP00000437639.1:p.Thr565Pro
ENST00000557933.5:c.2227A>C	ENSP00000453557.1:p.Thr743Pro
ENST00000558013.5:c.2227A>C	ENSP00000453346.1:p.Thr743Pro
ENST00000558518.5:c.2227A>C	ENSP00000454071.1:p.Thr743Pro
NM_000527.4:c.2227A>C , LRG_274t1:c.2227A>C	NP_000518.1:p.Thr743Pro
NM_001195798.1:c.2227A>C	NP_001182727.1:p.Thr743Pro
NM_001195799.1:c.2104A>C	NP_001182728.1:p.Thr702Pro
NM_001195800.1:c.1723A>C	NP_001182729.1:p.Thr575Pro
NM_001195803.1:c.1693A>C	NP_001182732.1:p.Thr565Pro
XM_011528010.1:c.2227A>C	XP_011526312.1:p.Thr743Pro
XM_011528011.1:c.1846A>C	XP_011526313.1:p.Thr616Pro
XR_244074.2:n.2237A>C
XM_011528010.2:c.2227A>C	XP_011526312.1:p.Thr743Pro
XR_001753685.2:n.2561A>C
XR_001753686.2:n.2204A>C
NM_000527.5:c.2227A>C MANE Select	NP_000518.1:p.Thr743Pro
NM_001195798.2:c.2227A>C	NP_001182727.1:p.Thr743Pro
NM_001195799.2:c.2104A>C	NP_001182728.1:p.Thr702Pro
NM_001195800.2:c.1723A>C	NP_001182729.1:p.Thr575Pro
NM_001195803.2:c.1693A>C	NP_001182732.1:p.Thr565Pro