Canonical Allele Identifier: CA404082626

Gene: LDLR

Linked Data

• dbSNP Id: rs1484574079
• MyVariant Identifiers: chr19:g.11221344G>T (hg19) ; chr19:g.11110668G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110668G>T , CM000681.2:g.11110668G>T	GRCh38
NC_000019.9:g.11221344G>T , CM000681.1:g.11221344G>T	GRCh37
NC_000019.8:g.11082344G>T	NCBI36
NG_009060.1:g.26288G>T , LRG_274:g.26288G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1215G>T	ENSP00000252444.6:p.Leu405Phe
ENST00000559340.2:c.957G>T	ENSP00000453696.2:p.Leu319Phe
ENST00000560467.2:c.941-846G>T	ENSP00000453513.2:n.941-846G>T
ENST00000558518.6:c.957G>T MANE Select	ENSP00000454071.1:p.Leu319Phe
ENST00000252444.9:c.1211G>T
ENST00000455727.6:c.453G>T	ENSP00000397829.2:p.Leu151Phe
ENST00000535915.5:c.834G>T	ENSP00000440520.1:p.Leu278Phe
ENST00000545707.5:c.576G>T	ENSP00000437639.1:p.Leu192Phe
ENST00000557933.5:c.957G>T	ENSP00000453557.1:p.Leu319Phe
ENST00000558013.5:c.957G>T	ENSP00000453346.1:p.Leu319Phe
ENST00000558518.5:c.957G>T	ENSP00000454071.1:p.Leu319Phe
ENST00000560467.1:c.541-846G>T
NM_000527.4:c.957G>T , LRG_274t1:c.957G>T	NP_000518.1:p.Leu319Phe
NM_001195798.1:c.957G>T	NP_001182727.1:p.Leu319Phe
NM_001195799.1:c.834G>T	NP_001182728.1:p.Leu278Phe
NM_001195800.1:c.453G>T	NP_001182729.1:p.Leu151Phe
NM_001195803.1:c.576G>T	NP_001182732.1:p.Leu192Phe
XM_011528010.1:c.957G>T	XP_011526312.1:p.Leu319Phe
XM_011528011.1:c.576G>T	XP_011526313.1:p.Leu192Phe
XR_244074.2:n.1107G>T
XM_011528010.2:c.957G>T	XP_011526312.1:p.Leu319Phe
XR_001753685.2:n.1074G>T
XR_001753686.2:n.1074G>T
NM_000527.5:c.957G>T MANE Select	NP_000518.1:p.Leu319Phe
NM_001195798.2:c.957G>T	NP_001182727.1:p.Leu319Phe
NM_001195799.2:c.834G>T	NP_001182728.1:p.Leu278Phe
NM_001195800.2:c.453G>T	NP_001182729.1:p.Leu151Phe
NM_001195803.2:c.576G>T	NP_001182732.1:p.Leu192Phe