Canonical Allele Identifier: CA404094996

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11233909A>T (hg19) ; chr19:g.11123233A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123233A>T , CM000681.2:g.11123233A>T	GRCh38
NC_000019.9:g.11233909A>T , CM000681.1:g.11233909A>T	GRCh37
NC_000019.8:g.11094909A>T	NCBI36
NG_009060.1:g.38853A>T , LRG_274:g.38853A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2458A>T	ENSP00000252444.6:p.Thr820Ser
ENST00000559340.2:c.*269A>T	ENSP00000453696.2:n.*269A>T
ENST00000560467.2:c.2080A>T	ENSP00000453513.2:p.Thr694Ser
ENST00000558518.6:c.2200A>T MANE Select	ENSP00000454071.1:p.Thr734Ser
ENST00000252444.9:c.2454A>T
ENST00000455727.6:c.1696A>T	ENSP00000397829.2:p.Thr566Ser
ENST00000535915.5:c.2077A>T	ENSP00000440520.1:p.Thr693Ser
ENST00000545707.5:c.1666A>T	ENSP00000437639.1:p.Thr556Ser
ENST00000557933.5:c.2200A>T	ENSP00000453557.1:p.Thr734Ser
ENST00000558013.5:c.2200A>T	ENSP00000453346.1:p.Thr734Ser
ENST00000558518.5:c.2200A>T	ENSP00000454071.1:p.Thr734Ser
NM_000527.4:c.2200A>T , LRG_274t1:c.2200A>T	NP_000518.1:p.Thr734Ser
NM_001195798.1:c.2200A>T	NP_001182727.1:p.Thr734Ser
NM_001195799.1:c.2077A>T	NP_001182728.1:p.Thr693Ser
NM_001195800.1:c.1696A>T	NP_001182729.1:p.Thr566Ser
NM_001195803.1:c.1666A>T	NP_001182732.1:p.Thr556Ser
XM_011528010.1:c.2200A>T	XP_011526312.1:p.Thr734Ser
XM_011528011.1:c.1819A>T	XP_011526313.1:p.Thr607Ser
XR_244074.2:n.2210A>T
XM_011528010.2:c.2200A>T	XP_011526312.1:p.Thr734Ser
XR_001753685.2:n.2534A>T
XR_001753686.2:n.2177A>T
NM_000527.5:c.2200A>T MANE Select	NP_000518.1:p.Thr734Ser
NM_001195798.2:c.2200A>T	NP_001182727.1:p.Thr734Ser
NM_001195799.2:c.2077A>T	NP_001182728.1:p.Thr693Ser
NM_001195800.2:c.1696A>T	NP_001182729.1:p.Thr566Ser
NM_001195803.2:c.1666A>T	NP_001182732.1:p.Thr556Ser