Canonical Allele Identifier: CA404081084

Gene: LDLR

Linked Data

• ClinVar Variation Id: 919009
• ClinVar RCV Id: RCV001176933
• dbSNP Id: rs2077315472
• MyVariant Identifiers: chr19:g.11218186G>T (hg19) ; chr19:g.11107510G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107510G>T , CM000681.2:g.11107510G>T	GRCh38
NC_000019.9:g.11218186G>T , CM000681.1:g.11218186G>T	GRCh37
NC_000019.8:g.11079186G>T	NCBI36
NG_009060.1:g.23130G>T , LRG_274:g.23130G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1194G>T	ENSP00000252444.6:p.Glu398Asp
ENST00000559340.2:c.936G>T	ENSP00000453696.2:p.Glu312Asp
ENST00000560467.2:c.936G>T	ENSP00000453513.2:p.Glu312Asp
ENST00000558518.6:c.936G>T MANE Select	ENSP00000454071.1:p.Glu312Asp
ENST00000252444.9:c.1190G>T
ENST00000455727.6:c.432G>T	ENSP00000397829.2:p.Glu144Asp
ENST00000535915.5:c.813G>T	ENSP00000440520.1:p.Glu271Asp
ENST00000545707.5:c.555G>T	ENSP00000437639.1:p.Glu185Asp
ENST00000557933.5:c.936G>T	ENSP00000453557.1:p.Glu312Asp
ENST00000558013.5:c.936G>T	ENSP00000453346.1:p.Glu312Asp
ENST00000558518.5:c.936G>T	ENSP00000454071.1:p.Glu312Asp
ENST00000558528.1:n.451G>T
ENST00000560467.1:c.536G>T
NM_000527.4:c.936G>T , LRG_274t1:c.936G>T	NP_000518.1:p.Glu312Asp
NM_001195798.1:c.936G>T	NP_001182727.1:p.Glu312Asp
NM_001195799.1:c.813G>T	NP_001182728.1:p.Glu271Asp
NM_001195800.1:c.432G>T	NP_001182729.1:p.Glu144Asp
NM_001195803.1:c.555G>T	NP_001182732.1:p.Glu185Asp
XM_011528010.1:c.936G>T	XP_011526312.1:p.Glu312Asp
XM_011528011.1:c.555G>T	XP_011526313.1:p.Glu185Asp
XR_244074.2:n.1086G>T
XM_011528010.2:c.936G>T	XP_011526312.1:p.Glu312Asp
XR_001753685.2:n.1053G>T
XR_001753686.2:n.1053G>T
NM_000527.5:c.936G>T MANE Select	NP_000518.1:p.Glu312Asp
NM_001195798.2:c.936G>T	NP_001182727.1:p.Glu312Asp
NM_001195799.2:c.813G>T	NP_001182728.1:p.Glu271Asp
NM_001195800.2:c.432G>T	NP_001182729.1:p.Glu144Asp
NM_001195803.2:c.555G>T	NP_001182732.1:p.Glu185Asp