Canonical Allele Identifier: CA2322770709
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111534C= , CM000681.2:g.11111534C= GRCh38
NC_000019.9:g.11222210C= , CM000681.1:g.11222210C= GRCh37
NC_000019.8:g.11083210C= NCBI36
NG_009060.1:g.27154C= , LRG_274:g.27154C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1339C= ENSP00000252444.6:p.Pro447=
ENST00000559340.2:c.1081C= ENSP00000453696.2:p.Pro361=
ENST00000560467.2:c.961C= ENSP00000453513.2:p.Pro321=
ENST00000558518.6:c.1081C= MANE Select ENSP00000454071.1:p.Pro361=
ENST00000252444.9:c.1335C=
ENST00000455727.6:c.577C= ENSP00000397829.2:p.Pro193=
ENST00000535915.5:c.958C= ENSP00000440520.1:p.Pro320=
ENST00000545707.5:c.700C= ENSP00000437639.1:p.Pro234=
ENST00000557933.5:c.1081C= ENSP00000453557.1:p.Pro361=
ENST00000558013.5:c.1081C= ENSP00000453346.1:p.Pro361=
ENST00000558518.5:c.1081C= ENSP00000454071.1:p.Pro361=
ENST00000560173.1:n.80C=
ENST00000560467.1:c.561C=
NM_000527.4:c.1081C= , LRG_274t1:c.1081C= NP_000518.1:p.Pro361=
NM_001195798.1:c.1081C= NP_001182727.1:p.Pro361=
NM_001195799.1:c.958C= NP_001182728.1:p.Pro320=
NM_001195800.1:c.577C= NP_001182729.1:p.Pro193=
NM_001195803.1:c.700C= NP_001182732.1:p.Pro234=
XM_011528010.1:c.1081C= XP_011526312.1:p.Pro361=
XM_011528011.1:c.700C= XP_011526313.1:p.Pro234=
XR_244074.2:n.1231C=
XM_011528010.2:c.1081C= XP_011526312.1:p.Pro361=
XR_001753685.2:n.1198C=
XR_001753686.2:n.1198C=
NM_000527.5:c.1081C= MANE Select NP_000518.1:p.Pro361=
NM_001195798.2:c.1081C= NP_001182727.1:p.Pro361=
NM_001195799.2:c.958C= NP_001182728.1:p.Pro320=
NM_001195800.2:c.577C= NP_001182729.1:p.Pro193=
NM_001195803.2:c.700C= NP_001182732.1:p.Pro234=