Canonical Allele Identifier: CA401463621

Gene: NPLOC4

Linked Data

• dbSNP Id: rs1258347288
• gnomAD v3: 17-81629805-T-C
• gnomAD v4: 17-81629805-T-C
• MyVariant Identifiers: chr17:g.79596831T>C (hg19) ; chr17:g.81629805T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81629805T>C , CM000679.2:g.81629805T>C	GRCh38
NC_000017.10:g.79596831T>C , CM000679.1:g.79596831T>C	GRCh37
NC_000017.9:g.77207236T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000705719.1:c.145A>G	ENSP00000516165.1:p.Ile49Val
ENST00000331134.11:c.16A>G MANE Select	ENSP00000331487.5:p.Ile6Val
ENST00000331134.10:c.16A>G	ENSP00000331487.5:p.Ile6Val
ENST00000374747.9:c.16A>G	ENSP00000363879.5:p.Ile6Val
ENST00000570300.1:n.37A>G
ENST00000574897.5:c.16A>G	ENSP00000461543.1:p.Ile6Val
ENST00000625705.1:c.13A>G	ENSP00000486640.1:p.Ile5Val
NM_017921.3:c.16A>G	NP_060391.2:p.Ile6Val
XM_011524979.1:c.16A>G	XP_011523281.1:p.Ile6Val
XM_011524980.1:c.16A>G	XP_011523282.1:p.Ile6Val
XM_011524981.1:c.16A>G	XP_011523283.1:p.Ile6Val
XM_011524982.1:c.16A>G	XP_011523284.1:p.Ile6Val
XR_934501.1:n.234A>G
XR_934502.1:n.234A>G
XM_011524982.2:c.16A>G	XP_011523284.1:p.Ile6Val
XR_001752557.1:n.234A>G
NM_017921.4:c.16A>G MANE Select	NP_060391.2:p.Ile6Val
NM_001369698.1:c.16A>G	NP_001356627.1:p.Ile6Val