Canonical Allele Identifier: CA404089614

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1052293
• ClinVar RCV Id: RCV001360446
• dbSNP Id: rs2147257169
• MyVariant Identifiers: chr19:g.11227535A>T (hg19) ; chr19:g.11116859A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116859A>T , CM000681.2:g.11116859A>T	GRCh38
NC_000019.9:g.11227535A>T , CM000681.1:g.11227535A>T	GRCh37
NC_000019.8:g.11088535A>T	NCBI36
NG_009060.1:g.32479A>T , LRG_274:g.32479A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1964A>T	ENSP00000252444.6:p.Asp655Val
ENST00000559340.2:c.1705+647A>T	ENSP00000453696.2:n.1705+647A>T
ENST00000560467.2:c.1586A>T	ENSP00000453513.2:p.Asp529Val
ENST00000558518.6:c.1706A>T MANE Select	ENSP00000454071.1:p.Asp569Val
ENST00000252444.9:c.1960A>T
ENST00000455727.6:c.1202A>T	ENSP00000397829.2:p.Asp401Val
ENST00000535915.5:c.1583A>T	ENSP00000440520.1:p.Asp528Val
ENST00000545707.5:c.1325A>T	ENSP00000437639.1:p.Asp442Val
ENST00000557933.5:c.1706A>T	ENSP00000453557.1:p.Asp569Val
ENST00000558013.5:c.1706A>T	ENSP00000453346.1:p.Asp569Val
ENST00000558518.5:c.1706A>T	ENSP00000454071.1:p.Asp569Val
ENST00000559340.1:c.426+647A>T
NM_000527.4:c.1706A>T , LRG_274t1:c.1706A>T	NP_000518.1:p.Asp569Val
NM_001195798.1:c.1706A>T	NP_001182727.1:p.Asp569Val
NM_001195799.1:c.1583A>T	NP_001182728.1:p.Asp528Val
NM_001195800.1:c.1202A>T	NP_001182729.1:p.Asp401Val
NM_001195803.1:c.1325A>T	NP_001182732.1:p.Asp442Val
XM_011528010.1:c.1706A>T	XP_011526312.1:p.Asp569Val
XM_011528011.1:c.1325A>T	XP_011526313.1:p.Asp442Val
XR_244074.2:n.1855+647A>T
XM_011528010.2:c.1706A>T	XP_011526312.1:p.Asp569Val
XR_001753685.2:n.1823A>T
XR_001753686.2:n.1822+647A>T
NM_000527.5:c.1706A>T MANE Select	NP_000518.1:p.Asp569Val
NM_001195798.2:c.1706A>T	NP_001182727.1:p.Asp569Val
NM_001195799.2:c.1583A>T	NP_001182728.1:p.Asp528Val
NM_001195800.2:c.1202A>T	NP_001182729.1:p.Asp401Val
NM_001195803.2:c.1325A>T	NP_001182732.1:p.Asp442Val