Canonical Allele Identifier: CA305305058

Gene: LDLR

Linked Data

• dbSNP Id: rs7508676
• MyVariant Identifiers: chr19:g.11233865T>C (hg19) ; chr19:g.11123189T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123189T>C , CM000681.2:g.11123189T>C	GRCh38
NC_000019.9:g.11233865T>C , CM000681.1:g.11233865T>C	GRCh37
NC_000019.8:g.11094865T>C	NCBI36
NG_009060.1:g.38809T>C , LRG_274:g.38809T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2414T>C	ENSP00000252444.6:p.Val805Ala
ENST00000559340.2:c.*225T>C	ENSP00000453696.2:n.*225T>C
ENST00000560467.2:c.2036T>C	ENSP00000453513.2:p.Val679Ala
ENST00000558518.6:c.2156T>C MANE Select	ENSP00000454071.1:p.Val719Ala
ENST00000252444.9:c.2410T>C
ENST00000455727.6:c.1652T>C	ENSP00000397829.2:p.Val551Ala
ENST00000535915.5:c.2033T>C	ENSP00000440520.1:p.Val678Ala
ENST00000545707.5:c.1622T>C	ENSP00000437639.1:p.Val541Ala
ENST00000557933.5:c.2156T>C	ENSP00000453557.1:p.Val719Ala
ENST00000558013.5:c.2156T>C	ENSP00000453346.1:p.Val719Ala
ENST00000558518.5:c.2156T>C	ENSP00000454071.1:p.Val719Ala
NM_000527.4:c.2156T>C , LRG_274t1:c.2156T>C	NP_000518.1:p.Val719Ala
NM_001195798.1:c.2156T>C	NP_001182727.1:p.Val719Ala
NM_001195799.1:c.2033T>C	NP_001182728.1:p.Val678Ala
NM_001195800.1:c.1652T>C	NP_001182729.1:p.Val551Ala
NM_001195803.1:c.1622T>C	NP_001182732.1:p.Val541Ala
XM_011528010.1:c.2156T>C	XP_011526312.1:p.Val719Ala
XM_011528011.1:c.1775T>C	XP_011526313.1:p.Val592Ala
XR_244074.2:n.2166T>C
XM_011528010.2:c.2156T>C	XP_011526312.1:p.Val719Ala
XR_001753685.2:n.2490T>C
XR_001753686.2:n.2133T>C
NM_000527.5:c.2156T>C MANE Select	NP_000518.1:p.Val719Ala
NM_001195798.2:c.2156T>C	NP_001182727.1:p.Val719Ala
NM_001195799.2:c.2033T>C	NP_001182728.1:p.Val678Ala
NM_001195800.2:c.1652T>C	NP_001182729.1:p.Val551Ala
NM_001195803.2:c.1622T>C	NP_001182732.1:p.Val541Ala