Canonical Allele Identifier: CA2322775646
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120495G= , CM000681.2:g.11120495G= GRCh38
NC_000019.9:g.11231171G= , CM000681.1:g.11231171G= GRCh37
NC_000019.8:g.11092171G= NCBI36
NG_009060.1:g.36115G= , LRG_274:g.36115G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2371G= ENSP00000252444.6:p.Ala791=
ENST00000559340.2:c.*182G= ENSP00000453696.2:n.*182G=
ENST00000560467.2:c.1993G= ENSP00000453513.2:p.Ala665=
ENST00000558518.6:c.2113G= MANE Select ENSP00000454071.1:p.Ala705=
ENST00000252444.9:c.2367G=
ENST00000455727.6:c.1609G= ENSP00000397829.2:p.Ala537=
ENST00000535915.5:c.1990G= ENSP00000440520.1:p.Ala664=
ENST00000545707.5:c.1606+262G= ENSP00000437639.1:n.1606+262G=
ENST00000557933.5:c.2113G= ENSP00000453557.1:p.Ala705=
ENST00000558013.5:c.2113G= ENSP00000453346.1:p.Ala705=
ENST00000558518.5:c.2113G= ENSP00000454071.1:p.Ala705=
NM_000527.4:c.2113G= , LRG_274t1:c.2113G= NP_000518.1:p.Ala705=
NM_001195798.1:c.2113G= NP_001182727.1:p.Ala705=
NM_001195799.1:c.1990G= NP_001182728.1:p.Ala664=
NM_001195800.1:c.1609G= NP_001182729.1:p.Ala537=
NM_001195803.1:c.1606+262G= NP_001182732.1:n.1606+262G=
XM_011528010.1:c.2113G= XP_011526312.1:p.Ala705=
XM_011528011.1:c.1732G= XP_011526313.1:p.Ala578=
XR_244074.2:n.2123G=
XM_011528010.2:c.2113G= XP_011526312.1:p.Ala705=
XR_001753685.2:n.2230G=
XR_001753686.2:n.2090G=
NM_000527.5:c.2113G= MANE Select NP_000518.1:p.Ala705=
NM_001195798.2:c.2113G= NP_001182727.1:p.Ala705=
NM_001195799.2:c.1990G= NP_001182728.1:p.Ala664=
NM_001195800.2:c.1609G= NP_001182729.1:p.Ala537=
NM_001195803.2:c.1606+262G= NP_001182732.1:n.1606+262G=