Canonical Allele Identifier: CA2374233
Gene: PLXNB1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48413746C>T , CM000665.2:g.48413746C>T GRCh38
NC_000003.11:g.48455155C>T , CM000665.1:g.48455155C>T GRCh37
NC_000003.10:g.48430159C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296440.11:c.4459G>A MANE Select ENSP00000296440.6:p.Val1487Met
ENST00000296440.10:c.4459G>A ENSP00000296440.6:p.Val1487Met
ENST00000358536.8:c.4459G>A ENSP00000351338.4:p.Val1487Met
ENST00000456774.5:c.3910G>A ENSP00000414199.1:p.Val1304Met
ENST00000473996.1:n.508G>A
ENST00000485535.5:n.185G>A
NM_001130082.2:c.4459G>A NP_001123554.1:p.Val1487Met
NM_002673.5:c.4459G>A NP_002664.2:p.Val1487Met
XM_011533832.1:c.4459G>A XP_011532134.1:p.Val1487Met
XM_011533833.1:c.4459G>A XP_011532135.1:p.Val1487Met
XM_011533834.1:c.4459G>A XP_011532136.1:p.Val1487Met
XM_011533835.1:c.4459G>A XP_011532137.1:p.Val1487Met
XM_011533836.1:c.4459G>A XP_011532138.1:p.Val1487Met
XM_011533837.1:c.4459G>A XP_011532139.1:p.Val1487Met
XR_940457.1:n.8000G>A
XR_940458.1:n.8007G>A
XM_011533833.2:c.4459G>A XP_011532135.1:p.Val1487Met
XM_011533837.2:c.4459G>A XP_011532139.1:p.Val1487Met
XM_017006630.1:c.4459G>A XP_016862119.1:p.Val1487Met
XM_017006631.1:c.4459G>A XP_016862120.1:p.Val1487Met
XM_024453600.1:c.4459G>A XP_024309368.1:p.Val1487Met
XR_001740177.2:n.8389G>A
XR_940457.2:n.8390G>A
XR_940458.2:n.8396G>A
NM_001130082.3:c.4459G>A MANE Select NP_001123554.1:p.Val1487Met
NM_002673.6:c.4459G>A NP_002664.2:p.Val1487Met