Canonical Allele Identifier: CA404096889

Gene: LDLR

Linked Data

• COSMIC: COSM6302971
• MyVariant Identifiers: chr19:g.11238750T>C (hg19) ; chr19:g.11128074T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128074T>C , CM000681.2:g.11128074T>C	GRCh38
NC_000019.9:g.11238750T>C , CM000681.1:g.11238750T>C	GRCh37
NC_000019.8:g.11099750T>C	NCBI36
NG_009060.1:g.43694T>C , LRG_274:g.43694T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2636T>C	ENSP00000252444.6:p.Val879Ala
ENST00000559340.2:c.*447T>C	ENSP00000453696.2:n.*447T>C
ENST00000560467.2:c.2258T>C	ENSP00000453513.2:p.Val753Ala
ENST00000558518.6:c.2378T>C MANE Select	ENSP00000454071.1:p.Val793Ala
ENST00000252444.9:c.2632T>C
ENST00000455727.6:c.1874T>C	ENSP00000397829.2:p.Val625Ala
ENST00000535915.5:c.2255T>C	ENSP00000440520.1:p.Val752Ala
ENST00000545707.5:c.1844T>C	ENSP00000437639.1:p.Val615Ala
ENST00000557933.5:c.2378T>C	ENSP00000453557.1:p.Val793Ala
ENST00000558013.5:c.2378T>C	ENSP00000453346.1:p.Val793Ala
ENST00000558518.5:c.2378T>C	ENSP00000454071.1:p.Val793Ala
ENST00000560628.1:n.108+420T>C
NM_000527.4:c.2378T>C , LRG_274t1:c.2378T>C	NP_000518.1:p.Val793Ala
NM_001195798.1:c.2378T>C	NP_001182727.1:p.Val793Ala
NM_001195799.1:c.2255T>C	NP_001182728.1:p.Val752Ala
NM_001195800.1:c.1874T>C	NP_001182729.1:p.Val625Ala
NM_001195803.1:c.1844T>C	NP_001182732.1:p.Val615Ala
XM_011528010.1:c.2312-1439T>C	XP_011526312.1:n.2312-1439T>C
XM_011528011.1:c.1997T>C	XP_011526313.1:p.Val666Ala
XR_244074.2:n.2388T>C
XM_011528010.2:c.2312-1439T>C	XP_011526312.1:n.2312-1439T>C
XR_001753685.2:n.2712T>C
XR_001753686.2:n.2355T>C
NM_000527.5:c.2378T>C MANE Select	NP_000518.1:p.Val793Ala
NM_001195798.2:c.2378T>C	NP_001182727.1:p.Val793Ala
NM_001195799.2:c.2255T>C	NP_001182728.1:p.Val752Ala
NM_001195800.2:c.1874T>C	NP_001182729.1:p.Val625Ala
NM_001195803.2:c.1844T>C	NP_001182732.1:p.Val615Ala