Canonical Allele Identifier: CA2322770290
Gene: LDLR HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1291C= ENSP00000252444.6:p.Gln431=
ENST00000559340.2:c.1033C= ENSP00000453696.2:p.Gln345=
ENST00000560467.2:c.941-770C= ENSP00000453513.2:n.941-770C=
ENST00000558518.6:c.1033C= MANE Select ENSP00000454071.1:p.Gln345=
ENST00000252444.9:c.1287C=
ENST00000455727.6:c.529C= ENSP00000397829.2:p.Gln177=
ENST00000535915.5:c.910C= ENSP00000440520.1:p.Gln304=
ENST00000545707.5:c.652C= ENSP00000437639.1:p.Gln218=
ENST00000557933.5:c.1033C= ENSP00000453557.1:p.Gln345=
ENST00000558013.5:c.1033C= ENSP00000453346.1:p.Gln345=
ENST00000558518.5:c.1033C= ENSP00000454071.1:p.Gln345=
ENST00000560173.1:n.32C=
ENST00000560467.1:c.541-770C=
NM_000527.4:c.1033C= , LRG_274t1:c.1033C= NP_000518.1:p.Gln345=
NM_001195798.1:c.1033C= NP_001182727.1:p.Gln345=
NM_001195799.1:c.910C= NP_001182728.1:p.Gln304=
NM_001195800.1:c.529C= NP_001182729.1:p.Gln177=
NM_001195803.1:c.652C= NP_001182732.1:p.Gln218=
XM_011528010.1:c.1033C= XP_011526312.1:p.Gln345=
XM_011528011.1:c.652C= XP_011526313.1:p.Gln218=
XR_244074.2:n.1183C=
XM_011528010.2:c.1033C= XP_011526312.1:p.Gln345=
XR_001753685.2:n.1150C=
XR_001753686.2:n.1150C=
NM_000527.5:c.1033C= MANE Select NP_000518.1:p.Gln345=
NM_001195798.2:c.1033C= NP_001182727.1:p.Gln345=
NM_001195799.2:c.910C= NP_001182728.1:p.Gln304=
NM_001195800.2:c.529C= NP_001182729.1:p.Gln177=
NM_001195803.2:c.652C= NP_001182732.1:p.Gln218=