Canonical Allele Identifier: CA10585235
Community Standard Title: NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
Gene: LDLR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110688C>G , CM000681.2:g.11110688C>G GRCh38
NC_000019.9:g.11221364C>G , CM000681.1:g.11221364C>G GRCh37
NC_000019.8:g.11082364C>G NCBI36
NG_009060.1:g.26308C>G , LRG_274:g.26308C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000527.5:c.977C>G MANE Select NP_000518.1:p.Ser326Cys
ENST00000558518.6:c.977C>G MANE Select ENSP00000454071.1:p.Ser326Cys
NM_000527.4:c.977C>G , LRG_274t1:c.977C>G NP_000518.1:p.Ser326Cys
NM_001195798.1:c.977C>G NP_001182727.1:p.Ser326Cys
NM_001195798.2:c.977C>G NP_001182727.1:p.Ser326Cys
NM_001195799.1:c.854C>G NP_001182728.1:p.Ser285Cys
NM_001195799.2:c.854C>G NP_001182728.1:p.Ser285Cys
NM_001195800.1:c.473C>G NP_001182729.1:p.Ser158Cys
NM_001195800.2:c.473C>G NP_001182729.1:p.Ser158Cys
NM_001195803.1:c.596C>G NP_001182732.1:p.Ser199Cys
NM_001195803.2:c.596C>G NP_001182732.1:p.Ser199Cys
ENST00000252444.10:c.1235C>G ENSP00000252444.6:p.Ser412Cys
ENST00000252444.9:c.1231C>G
ENST00000455727.6:c.473C>G ENSP00000397829.2:p.Ser158Cys
ENST00000535915.5:c.854C>G ENSP00000440520.1:p.Ser285Cys
ENST00000545707.5:c.596C>G ENSP00000437639.1:p.Ser199Cys
ENST00000557933.5:c.977C>G ENSP00000453557.1:p.Ser326Cys
ENST00000558013.5:c.977C>G ENSP00000453346.1:p.Ser326Cys
ENST00000558518.5:c.977C>G ENSP00000454071.1:p.Ser326Cys
ENST00000559340.2:c.977C>G ENSP00000453696.2:p.Ser326Cys
ENST00000560467.1:c.541-826C>G
ENST00000560467.2:c.941-826C>G ENSP00000453513.2:n.941-826C>G
XM_011528010.1:c.977C>G XP_011526312.1:p.Ser326Cys
XM_011528010.2:c.977C>G XP_011526312.1:p.Ser326Cys
XM_011528011.1:c.596C>G XP_011526313.1:p.Ser199Cys
XR_001753685.2:n.1094C>G
XR_001753686.2:n.1094C>G
XR_244074.2:n.1127C>G
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