Canonical Allele Identifier: CA404089869
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116990G>C , CM000681.2:g.11116990G>C GRCh38
NC_000019.9:g.11227666G>C , CM000681.1:g.11227666G>C GRCh37
NC_000019.8:g.11088666G>C NCBI36
NG_009060.1:g.32610G>C , LRG_274:g.32610G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2095G>C ENSP00000252444.6:p.Val699Leu
ENST00000559340.2:c.1705+778G>C ENSP00000453696.2:n.1705+778G>C
ENST00000560467.2:c.1717G>C ENSP00000453513.2:p.Val573Leu
ENST00000558518.6:c.1837G>C MANE Select ENSP00000454071.1:p.Val613Leu
ENST00000252444.9:c.2091G>C
ENST00000455727.6:c.1333G>C ENSP00000397829.2:p.Val445Leu
ENST00000535915.5:c.1714G>C ENSP00000440520.1:p.Val572Leu
ENST00000545707.5:c.1456G>C ENSP00000437639.1:p.Val486Leu
ENST00000557933.5:c.1837G>C ENSP00000453557.1:p.Val613Leu
ENST00000558013.5:c.1837G>C ENSP00000453346.1:p.Val613Leu
ENST00000558518.5:c.1837G>C ENSP00000454071.1:p.Val613Leu
ENST00000559340.1:c.426+778G>C
NM_000527.4:c.1837G>C , LRG_274t1:c.1837G>C NP_000518.1:p.Val613Leu
NM_001195798.1:c.1837G>C NP_001182727.1:p.Val613Leu
NM_001195799.1:c.1714G>C NP_001182728.1:p.Val572Leu
NM_001195800.1:c.1333G>C NP_001182729.1:p.Val445Leu
NM_001195803.1:c.1456G>C NP_001182732.1:p.Val486Leu
XM_011528010.1:c.1837G>C XP_011526312.1:p.Val613Leu
XM_011528011.1:c.1456G>C XP_011526313.1:p.Val486Leu
XR_244074.2:n.1855+778G>C
XM_011528010.2:c.1837G>C XP_011526312.1:p.Val613Leu
XR_001753685.2:n.1954G>C
XR_001753686.2:n.1822+778G>C
NM_000527.5:c.1837G>C MANE Select NP_000518.1:p.Val613Leu
NM_001195798.2:c.1837G>C NP_001182727.1:p.Val613Leu
NM_001195799.2:c.1714G>C NP_001182728.1:p.Val572Leu
NM_001195800.2:c.1333G>C NP_001182729.1:p.Val445Leu
NM_001195803.2:c.1456G>C NP_001182732.1:p.Val486Leu