Canonical Allele Identifier: CA295079430

Gene: NPLOC4

Linked Data

• dbSNP Id: rs917207444
• gnomAD v4: 17-81629772-G-A
• MyVariant Identifiers: chr17:g.79596798G>A (hg19) ; chr17:g.81629772G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81629772G>A , CM000679.2:g.81629772G>A	GRCh38
NC_000017.10:g.79596798G>A , CM000679.1:g.79596798G>A	GRCh37
NC_000017.9:g.77207203G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000705719.1:c.178C>T	ENSP00000516165.1:p.Arg60Trp
ENST00000331134.11:c.49C>T MANE Select	ENSP00000331487.5:p.Arg17Trp
ENST00000331134.10:c.49C>T	ENSP00000331487.5:p.Arg17Trp
ENST00000374747.9:c.49C>T	ENSP00000363879.5:p.Arg17Trp
ENST00000570300.1:n.70C>T
ENST00000574897.5:c.49C>T	ENSP00000461543.1:p.Arg17Trp
ENST00000625705.1:c.46C>T	ENSP00000486640.1:p.Arg16Trp
NM_017921.3:c.49C>T	NP_060391.2:p.Arg17Trp
XM_011524979.1:c.49C>T	XP_011523281.1:p.Arg17Trp
XM_011524980.1:c.49C>T	XP_011523282.1:p.Arg17Trp
XM_011524981.1:c.49C>T	XP_011523283.1:p.Arg17Trp
XM_011524982.1:c.49C>T	XP_011523284.1:p.Arg17Trp
XR_934501.1:n.267C>T
XR_934502.1:n.267C>T
XM_011524982.2:c.49C>T	XP_011523284.1:p.Arg17Trp
XR_001752557.1:n.267C>T
NM_017921.4:c.49C>T MANE Select	NP_060391.2:p.Arg17Trp
NM_001369698.1:c.49C>T	NP_001356627.1:p.Arg17Trp