Canonical Allele Identifier: CA404093979

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1380712
• ClinVar RCV Id: RCV001886437
• dbSNP Id: rs879255144
• MyVariant Identifiers: chr19:g.11231189T>C (hg19) ; chr19:g.11120513T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120513T>C , CM000681.2:g.11120513T>C	GRCh38
NC_000019.9:g.11231189T>C , CM000681.1:g.11231189T>C	GRCh37
NC_000019.8:g.11092189T>C	NCBI36
NG_009060.1:g.36133T>C , LRG_274:g.36133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2389T>C	ENSP00000252444.6:p.Cys797Arg
ENST00000559340.2:c.*200T>C	ENSP00000453696.2:n.*200T>C
ENST00000560467.2:c.2011T>C	ENSP00000453513.2:p.Cys671Arg
ENST00000558518.6:c.2131T>C MANE Select	ENSP00000454071.1:p.Cys711Arg
ENST00000252444.9:c.2385T>C
ENST00000455727.6:c.1627T>C	ENSP00000397829.2:p.Cys543Arg
ENST00000535915.5:c.2008T>C	ENSP00000440520.1:p.Cys670Arg
ENST00000545707.5:c.1606+280T>C	ENSP00000437639.1:n.1606+280T>C
ENST00000557933.5:c.2131T>C	ENSP00000453557.1:p.Cys711Arg
ENST00000558013.5:c.2131T>C	ENSP00000453346.1:p.Cys711Arg
ENST00000558518.5:c.2131T>C	ENSP00000454071.1:p.Cys711Arg
NM_000527.4:c.2131T>C , LRG_274t1:c.2131T>C	NP_000518.1:p.Cys711Arg
NM_001195798.1:c.2131T>C	NP_001182727.1:p.Cys711Arg
NM_001195799.1:c.2008T>C	NP_001182728.1:p.Cys670Arg
NM_001195800.1:c.1627T>C	NP_001182729.1:p.Cys543Arg
NM_001195803.1:c.1606+280T>C	NP_001182732.1:n.1606+280T>C
XM_011528010.1:c.2131T>C	XP_011526312.1:p.Cys711Arg
XM_011528011.1:c.1750T>C	XP_011526313.1:p.Cys584Arg
XR_244074.2:n.2141T>C
XM_011528010.2:c.2131T>C	XP_011526312.1:p.Cys711Arg
XR_001753685.2:n.2248T>C
XR_001753686.2:n.2108T>C
NM_000527.5:c.2131T>C MANE Select	NP_000518.1:p.Cys711Arg
NM_001195798.2:c.2131T>C	NP_001182727.1:p.Cys711Arg
NM_001195799.2:c.2008T>C	NP_001182728.1:p.Cys670Arg
NM_001195800.2:c.1627T>C	NP_001182729.1:p.Cys543Arg
NM_001195803.2:c.1606+280T>C	NP_001182732.1:n.1606+280T>C