Canonical Allele Identifier: CA10576295
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226341
dbSNP Id: rs875989913

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110744C>T , CM000681.2:g.11110744C>T GRCh38
NC_000019.9:g.11221420C>T , CM000681.1:g.11221420C>T GRCh37
NC_000019.8:g.11082420C>T NCBI36
NG_009060.1:g.26364C>T , LRG_274:g.26364C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1291C>T ENSP00000252444.6:p.Gln431Ter
ENST00000559340.2:c.1033C>T ENSP00000453696.2:p.Gln345Ter
ENST00000560467.2:c.941-770C>T ENSP00000453513.2:n.941-770C>T
ENST00000558518.6:c.1033C>T MANE Select ENSP00000454071.1:p.Gln345Ter
ENST00000252444.9:c.1287C>T
ENST00000455727.6:c.529C>T ENSP00000397829.2:p.Gln177Ter
ENST00000535915.5:c.910C>T ENSP00000440520.1:p.Gln304Ter
ENST00000545707.5:c.652C>T ENSP00000437639.1:p.Gln218Ter
ENST00000557933.5:c.1033C>T ENSP00000453557.1:p.Gln345Ter
ENST00000558013.5:c.1033C>T ENSP00000453346.1:p.Gln345Ter
ENST00000558518.5:c.1033C>T ENSP00000454071.1:p.Gln345Ter
ENST00000560173.1:n.32C>T
ENST00000560467.1:c.541-770C>T
NM_000527.4:c.1033C>T , LRG_274t1:c.1033C>T NP_000518.1:p.Gln345Ter
NM_001195798.1:c.1033C>T NP_001182727.1:p.Gln345Ter
NM_001195799.1:c.910C>T NP_001182728.1:p.Gln304Ter
NM_001195800.1:c.529C>T NP_001182729.1:p.Gln177Ter
NM_001195803.1:c.652C>T NP_001182732.1:p.Gln218Ter
XM_011528010.1:c.1033C>T XP_011526312.1:p.Gln345Ter
XM_011528011.1:c.652C>T XP_011526313.1:p.Gln218Ter
XR_244074.2:n.1183C>T
XM_011528010.2:c.1033C>T XP_011526312.1:p.Gln345Ter
XR_001753685.2:n.1150C>T
XR_001753686.2:n.1150C>T
NM_000527.5:c.1033C>T MANE Select NP_000518.1:p.Gln345Ter
NM_001195798.2:c.1033C>T NP_001182727.1:p.Gln345Ter
NM_001195799.2:c.910C>T NP_001182728.1:p.Gln304Ter
NM_001195800.2:c.529C>T NP_001182729.1:p.Gln177Ter
NM_001195803.2:c.652C>T NP_001182732.1:p.Gln218Ter