Canonical Allele Identifier: CA2322775420
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120200A= , CM000681.2:g.11120200A= GRCh38
NC_000019.9:g.11230876A= , CM000681.1:g.11230876A= GRCh37
NC_000019.8:g.11091876A= NCBI36
NG_009060.1:g.35820A= , LRG_274:g.35820A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2212A= ENSP00000252444.6:p.Met738=
ENST00000559340.2:c.*23A= ENSP00000453696.2:n.*23A=
ENST00000560467.2:c.1834A= ENSP00000453513.2:p.Met612=
ENST00000558518.6:c.1954A= MANE Select ENSP00000454071.1:p.Met652=
ENST00000252444.9:c.2208A=
ENST00000455727.6:c.1450A= ENSP00000397829.2:p.Met484=
ENST00000535915.5:c.1831A= ENSP00000440520.1:p.Met611=
ENST00000545707.5:c.1573A= ENSP00000437639.1:p.Met525=
ENST00000557933.5:c.1954A= ENSP00000453557.1:p.Met652=
ENST00000558013.5:c.1954A= ENSP00000453346.1:p.Met652=
ENST00000558518.5:c.1954A= ENSP00000454071.1:p.Met652=
ENST00000559340.1:c.535A=
NM_000527.4:c.1954A= , LRG_274t1:c.1954A= NP_000518.1:p.Met652=
NM_001195798.1:c.1954A= NP_001182727.1:p.Met652=
NM_001195799.1:c.1831A= NP_001182728.1:p.Met611=
NM_001195800.1:c.1450A= NP_001182729.1:p.Met484=
NM_001195803.1:c.1573A= NP_001182732.1:p.Met525=
XM_011528010.1:c.1954A= XP_011526312.1:p.Met652=
XM_011528011.1:c.1573A= XP_011526313.1:p.Met525=
XR_244074.2:n.1964A=
XM_011528010.2:c.1954A= XP_011526312.1:p.Met652=
XR_001753685.2:n.2071A=
XR_001753686.2:n.1931A=
NM_000527.5:c.1954A= MANE Select NP_000518.1:p.Met652=
NM_001195798.2:c.1954A= NP_001182727.1:p.Met652=
NM_001195799.2:c.1831A= NP_001182728.1:p.Met611=
NM_001195800.2:c.1450A= NP_001182729.1:p.Met484=
NM_001195803.2:c.1573A= NP_001182732.1:p.Met525=