Canonical Allele Identifier: CA404094739

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11233851G>T (hg19) ; chr19:g.11123175G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123175G>T , CM000681.2:g.11123175G>T	GRCh38
NC_000019.9:g.11233851G>T , CM000681.1:g.11233851G>T	GRCh37
NC_000019.8:g.11094851G>T	NCBI36
NG_009060.1:g.38795G>T , LRG_274:g.38795G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2400G>T	ENSP00000252444.6:p.Glu800Asp
ENST00000559340.2:c.*211G>T	ENSP00000453696.2:n.*211G>T
ENST00000560467.2:c.2022G>T	ENSP00000453513.2:p.Glu674Asp
ENST00000558518.6:c.2142G>T MANE Select	ENSP00000454071.1:p.Glu714Asp
ENST00000252444.9:c.2396G>T
ENST00000455727.6:c.1638G>T	ENSP00000397829.2:p.Glu546Asp
ENST00000535915.5:c.2019G>T	ENSP00000440520.1:p.Glu673Asp
ENST00000545707.5:c.1608G>T	ENSP00000437639.1:p.Glu536Asp
ENST00000557933.5:c.2142G>T	ENSP00000453557.1:p.Glu714Asp
ENST00000558013.5:c.2142G>T	ENSP00000453346.1:p.Glu714Asp
ENST00000558518.5:c.2142G>T	ENSP00000454071.1:p.Glu714Asp
NM_000527.4:c.2142G>T , LRG_274t1:c.2142G>T	NP_000518.1:p.Glu714Asp
NM_001195798.1:c.2142G>T	NP_001182727.1:p.Glu714Asp
NM_001195799.1:c.2019G>T	NP_001182728.1:p.Glu673Asp
NM_001195800.1:c.1638G>T	NP_001182729.1:p.Glu546Asp
NM_001195803.1:c.1608G>T	NP_001182732.1:p.Glu536Asp
XM_011528010.1:c.2142G>T	XP_011526312.1:p.Glu714Asp
XM_011528011.1:c.1761G>T	XP_011526313.1:p.Glu587Asp
XR_244074.2:n.2152G>T
XM_011528010.2:c.2142G>T	XP_011526312.1:p.Glu714Asp
XR_001753685.2:n.2476G>T
XR_001753686.2:n.2119G>T
NM_000527.5:c.2142G>T MANE Select	NP_000518.1:p.Glu714Asp
NM_001195798.2:c.2142G>T	NP_001182727.1:p.Glu714Asp
NM_001195799.2:c.2019G>T	NP_001182728.1:p.Glu673Asp
NM_001195800.2:c.1638G>T	NP_001182729.1:p.Glu546Asp
NM_001195803.2:c.1608G>T	NP_001182732.1:p.Glu536Asp