Canonical Allele Identifier: CA502298167
Gene: NPLOC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.79596760A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81629734A>G , CM000679.2:g.81629734A>G GRCh38
NC_000017.10:g.79596760A>G , CM000679.1:g.79596760A>G GRCh37
NC_000017.9:g.77207165A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000705719.1:c.216T>C ENSP00000516165.1:p.Phe72=
ENST00000331134.11:c.87T>C MANE Select ENSP00000331487.5:p.Phe29=
ENST00000331134.10:c.87T>C ENSP00000331487.5:p.Phe29=
ENST00000374747.9:c.87T>C ENSP00000363879.5:p.Phe29=
ENST00000570300.1:n.108T>C
ENST00000574897.5:c.87T>C ENSP00000461543.1:p.Phe29=
ENST00000625705.1:c.84T>C ENSP00000486640.1:p.Phe28=
NM_017921.3:c.87T>C NP_060391.2:p.Phe29=
XM_011524979.1:c.87T>C XP_011523281.1:p.Phe29=
XM_011524980.1:c.87T>C XP_011523282.1:p.Phe29=
XM_011524981.1:c.87T>C XP_011523283.1:p.Phe29=
XM_011524982.1:c.87T>C XP_011523284.1:p.Phe29=
XR_934501.1:n.305T>C
XR_934502.1:n.305T>C
XM_011524982.2:c.87T>C XP_011523284.1:p.Phe29=
XR_001752557.1:n.305T>C
NM_017921.4:c.87T>C MANE Select NP_060391.2:p.Phe29=
NM_001369698.1:c.87T>C NP_001356627.1:p.Phe29=