Canonical Allele Identifier: CA404093466
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11231063A>G (hg19) chr19:g.11120387A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120387A>G , CM000681.2:g.11120387A>G GRCh38
NC_000019.9:g.11231063A>G , CM000681.1:g.11231063A>G GRCh37
NC_000019.8:g.11092063A>G NCBI36
NG_009060.1:g.36007A>G , LRG_274:g.36007A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2263A>G ENSP00000252444.6:p.Arg755Gly
ENST00000559340.2:c.*74A>G ENSP00000453696.2:n.*74A>G
ENST00000560467.2:c.1885A>G ENSP00000453513.2:p.Arg629Gly
ENST00000558518.6:c.2005A>G MANE Select ENSP00000454071.1:p.Arg669Gly
ENST00000252444.9:c.2259A>G
ENST00000455727.6:c.1501A>G ENSP00000397829.2:p.Arg501Gly
ENST00000535915.5:c.1882A>G ENSP00000440520.1:p.Arg628Gly
ENST00000545707.5:c.1606+154A>G ENSP00000437639.1:n.1606+154A>G
ENST00000557933.5:c.2005A>G ENSP00000453557.1:p.Arg669Gly
ENST00000558013.5:c.2005A>G ENSP00000453346.1:p.Arg669Gly
ENST00000558518.5:c.2005A>G ENSP00000454071.1:p.Arg669Gly
ENST00000559340.1:c.586A>G
NM_000527.4:c.2005A>G , LRG_274t1:c.2005A>G NP_000518.1:p.Arg669Gly
NM_001195798.1:c.2005A>G NP_001182727.1:p.Arg669Gly
NM_001195799.1:c.1882A>G NP_001182728.1:p.Arg628Gly
NM_001195800.1:c.1501A>G NP_001182729.1:p.Arg501Gly
NM_001195803.1:c.1606+154A>G NP_001182732.1:n.1606+154A>G
XM_011528010.1:c.2005A>G XP_011526312.1:p.Arg669Gly
XM_011528011.1:c.1624A>G XP_011526313.1:p.Arg542Gly
XR_244074.2:n.2015A>G
XM_011528010.2:c.2005A>G XP_011526312.1:p.Arg669Gly
XR_001753685.2:n.2122A>G
XR_001753686.2:n.1982A>G
NM_000527.5:c.2005A>G MANE Select NP_000518.1:p.Arg669Gly
NM_001195798.2:c.2005A>G NP_001182727.1:p.Arg669Gly
NM_001195799.2:c.1882A>G NP_001182728.1:p.Arg628Gly
NM_001195800.2:c.1501A>G NP_001182729.1:p.Arg501Gly
NM_001195803.2:c.1606+154A>G NP_001182732.1:n.1606+154A>G
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