Canonical Allele Identifier: CA502298163

Gene: NPLOC4

Linked Data

• gnomAD v4: 17-81629725-C-T
• MyVariant Identifiers: chr17:g.79596751C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81629725C>T , CM000679.2:g.81629725C>T	GRCh38
NC_000017.10:g.79596751C>T , CM000679.1:g.79596751C>T	GRCh37
NC_000017.9:g.77207156C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000705719.1:c.225G>A	ENSP00000516165.1:p.Lys75=
ENST00000331134.11:c.96G>A MANE Select	ENSP00000331487.5:p.Lys32=
ENST00000331134.10:c.96G>A	ENSP00000331487.5:p.Lys32=
ENST00000374747.9:c.96G>A	ENSP00000363879.5:p.Lys32=
ENST00000570300.1:n.117G>A
ENST00000574897.5:c.96G>A	ENSP00000461543.1:p.Lys32=
ENST00000625705.1:c.93G>A	ENSP00000486640.1:p.Lys31=
NM_017921.3:c.96G>A	NP_060391.2:p.Lys32=
XM_011524979.1:c.96G>A	XP_011523281.1:p.Lys32=
XM_011524980.1:c.96G>A	XP_011523282.1:p.Lys32=
XM_011524981.1:c.96G>A	XP_011523283.1:p.Lys32=
XM_011524982.1:c.96G>A	XP_011523284.1:p.Lys32=
XR_934501.1:n.314G>A
XR_934502.1:n.314G>A
XM_011524982.2:c.96G>A	XP_011523284.1:p.Lys32=
XR_001752557.1:n.314G>A
NM_017921.4:c.96G>A MANE Select	NP_060391.2:p.Lys32=
NM_001369698.1:c.96G>A	NP_001356627.1:p.Lys32=