Canonical Allele Identifier: CA401463461

Gene: NPLOC4

Linked Data

• dbSNP Id: rs1438669278
• gnomAD v2: 17-79596783-T-G
• gnomAD v4: 17-81629757-T-G
• MyVariant Identifiers: chr17:g.79596783T>G (hg19) ; chr17:g.81629757T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81629757T>G , CM000679.2:g.81629757T>G	GRCh38
NC_000017.10:g.79596783T>G , CM000679.1:g.79596783T>G	GRCh37
NC_000017.9:g.77207188T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000705719.1:c.193A>C	ENSP00000516165.1:p.Lys65Gln
ENST00000331134.11:c.64A>C MANE Select	ENSP00000331487.5:p.Lys22Gln
ENST00000331134.10:c.64A>C	ENSP00000331487.5:p.Lys22Gln
ENST00000374747.9:c.64A>C	ENSP00000363879.5:p.Lys22Gln
ENST00000570300.1:n.85A>C
ENST00000574897.5:c.64A>C	ENSP00000461543.1:p.Lys22Gln
ENST00000625705.1:c.61A>C	ENSP00000486640.1:p.Lys21Gln
NM_017921.3:c.64A>C	NP_060391.2:p.Lys22Gln
XM_011524979.1:c.64A>C	XP_011523281.1:p.Lys22Gln
XM_011524980.1:c.64A>C	XP_011523282.1:p.Lys22Gln
XM_011524981.1:c.64A>C	XP_011523283.1:p.Lys22Gln
XM_011524982.1:c.64A>C	XP_011523284.1:p.Lys22Gln
XR_934501.1:n.282A>C
XR_934502.1:n.282A>C
XM_011524982.2:c.64A>C	XP_011523284.1:p.Lys22Gln
XR_001752557.1:n.282A>C
NM_017921.4:c.64A>C MANE Select	NP_060391.2:p.Lys22Gln
NM_001369698.1:c.64A>C	NP_001356627.1:p.Lys22Gln