Canonical Allele Identifier: CA2322775638
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120486A= , CM000681.2:g.11120486A= GRCh38
NC_000019.9:g.11231162A= , CM000681.1:g.11231162A= GRCh37
NC_000019.8:g.11092162A= NCBI36
NG_009060.1:g.36106A= , LRG_274:g.36106A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2362A= ENSP00000252444.6:p.Met788=
ENST00000559340.2:c.*173A= ENSP00000453696.2:n.*173A=
ENST00000560467.2:c.1984A= ENSP00000453513.2:p.Met662=
ENST00000558518.6:c.2104A= MANE Select ENSP00000454071.1:p.Met702=
ENST00000252444.9:c.2358A=
ENST00000455727.6:c.1600A= ENSP00000397829.2:p.Met534=
ENST00000535915.5:c.1981A= ENSP00000440520.1:p.Met661=
ENST00000545707.5:c.1606+253A= ENSP00000437639.1:n.1606+253A=
ENST00000557933.5:c.2104A= ENSP00000453557.1:p.Met702=
ENST00000558013.5:c.2104A= ENSP00000453346.1:p.Met702=
ENST00000558518.5:c.2104A= ENSP00000454071.1:p.Met702=
NM_000527.4:c.2104A= , LRG_274t1:c.2104A= NP_000518.1:p.Met702=
NM_001195798.1:c.2104A= NP_001182727.1:p.Met702=
NM_001195799.1:c.1981A= NP_001182728.1:p.Met661=
NM_001195800.1:c.1600A= NP_001182729.1:p.Met534=
NM_001195803.1:c.1606+253A= NP_001182732.1:n.1606+253A=
XM_011528010.1:c.2104A= XP_011526312.1:p.Met702=
XM_011528011.1:c.1723A= XP_011526313.1:p.Met575=
XR_244074.2:n.2114A=
XM_011528010.2:c.2104A= XP_011526312.1:p.Met702=
XR_001753685.2:n.2221A=
XR_001753686.2:n.2081A=
NM_000527.5:c.2104A= MANE Select NP_000518.1:p.Met702=
NM_001195798.2:c.2104A= NP_001182727.1:p.Met702=
NM_001195799.2:c.1981A= NP_001182728.1:p.Met661=
NM_001195800.2:c.1600A= NP_001182729.1:p.Met534=
NM_001195803.2:c.1606+253A= NP_001182732.1:n.1606+253A=