Canonical Allele Identifier: CA401463395
Gene: NPLOC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81629736A>C , CM000679.2:g.81629736A>C GRCh38
NC_000017.10:g.79596762A>C , CM000679.1:g.79596762A>C GRCh37
NC_000017.9:g.77207167A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000705719.1:c.214T>G ENSP00000516165.1:p.Phe72Val
ENST00000331134.11:c.85T>G MANE Select ENSP00000331487.5:p.Phe29Val
ENST00000331134.10:c.85T>G ENSP00000331487.5:p.Phe29Val
ENST00000374747.9:c.85T>G ENSP00000363879.5:p.Phe29Val
ENST00000570300.1:n.106T>G
ENST00000574897.5:c.85T>G ENSP00000461543.1:p.Phe29Val
ENST00000625705.1:c.82T>G ENSP00000486640.1:p.Phe28Val
NM_017921.3:c.85T>G NP_060391.2:p.Phe29Val
XM_011524979.1:c.85T>G XP_011523281.1:p.Phe29Val
XM_011524980.1:c.85T>G XP_011523282.1:p.Phe29Val
XM_011524981.1:c.85T>G XP_011523283.1:p.Phe29Val
XM_011524982.1:c.85T>G XP_011523284.1:p.Phe29Val
XR_934501.1:n.303T>G
XR_934502.1:n.303T>G
XM_011524982.2:c.85T>G XP_011523284.1:p.Phe29Val
XR_001752557.1:n.303T>G
NM_017921.4:c.85T>G MANE Select NP_060391.2:p.Phe29Val
NM_001369698.1:c.85T>G NP_001356627.1:p.Phe29Val