Canonical Allele Identifier: CA305302665
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs879255086

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120204T>C , CM000681.2:g.11120204T>C GRCh38
NC_000019.9:g.11230880T>C , CM000681.1:g.11230880T>C GRCh37
NC_000019.8:g.11091880T>C NCBI36
NG_009060.1:g.35824T>C , LRG_274:g.35824T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2216T>C ENSP00000252444.6:p.Val739Ala
ENST00000559340.2:c.*27T>C ENSP00000453696.2:n.*27T>C
ENST00000560467.2:c.1838T>C ENSP00000453513.2:p.Val613Ala
ENST00000558518.6:c.1958T>C MANE Select ENSP00000454071.1:p.Val653Ala
ENST00000252444.9:c.2212T>C
ENST00000455727.6:c.1454T>C ENSP00000397829.2:p.Val485Ala
ENST00000535915.5:c.1835T>C ENSP00000440520.1:p.Val612Ala
ENST00000545707.5:c.1577T>C ENSP00000437639.1:p.Val526Ala
ENST00000557933.5:c.1958T>C ENSP00000453557.1:p.Val653Ala
ENST00000558013.5:c.1958T>C ENSP00000453346.1:p.Val653Ala
ENST00000558518.5:c.1958T>C ENSP00000454071.1:p.Val653Ala
ENST00000559340.1:c.539T>C
NM_000527.4:c.1958T>C , LRG_274t1:c.1958T>C NP_000518.1:p.Val653Ala
NM_001195798.1:c.1958T>C NP_001182727.1:p.Val653Ala
NM_001195799.1:c.1835T>C NP_001182728.1:p.Val612Ala
NM_001195800.1:c.1454T>C NP_001182729.1:p.Val485Ala
NM_001195803.1:c.1577T>C NP_001182732.1:p.Val526Ala
XM_011528010.1:c.1958T>C XP_011526312.1:p.Val653Ala
XM_011528011.1:c.1577T>C XP_011526313.1:p.Val526Ala
XR_244074.2:n.1968T>C
XM_011528010.2:c.1958T>C XP_011526312.1:p.Val653Ala
XR_001753685.2:n.2075T>C
XR_001753686.2:n.1935T>C
NM_000527.5:c.1958T>C MANE Select NP_000518.1:p.Val653Ala
NM_001195798.2:c.1958T>C NP_001182727.1:p.Val653Ala
NM_001195799.2:c.1835T>C NP_001182728.1:p.Val612Ala
NM_001195800.2:c.1454T>C NP_001182729.1:p.Val485Ala
NM_001195803.2:c.1577T>C NP_001182732.1:p.Val526Ala