Canonical Allele Identifier: CA401463378

Gene: NPLOC4

Linked Data

• gnomAD v4: 17-81629729-T-C
• MyVariant Identifiers: chr17:g.79596755T>C (hg19) ; chr17:g.81629729T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81629729T>C , CM000679.2:g.81629729T>C	GRCh38
NC_000017.10:g.79596755T>C , CM000679.1:g.79596755T>C	GRCh37
NC_000017.9:g.77207160T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000705719.1:c.221A>G	ENSP00000516165.1:p.Lys74Arg
ENST00000331134.11:c.92A>G MANE Select	ENSP00000331487.5:p.Lys31Arg
ENST00000331134.10:c.92A>G	ENSP00000331487.5:p.Lys31Arg
ENST00000374747.9:c.92A>G	ENSP00000363879.5:p.Lys31Arg
ENST00000570300.1:n.113A>G
ENST00000574897.5:c.92A>G	ENSP00000461543.1:p.Lys31Arg
ENST00000625705.1:c.89A>G	ENSP00000486640.1:p.Lys30Arg
NM_017921.3:c.92A>G	NP_060391.2:p.Lys31Arg
XM_011524979.1:c.92A>G	XP_011523281.1:p.Lys31Arg
XM_011524980.1:c.92A>G	XP_011523282.1:p.Lys31Arg
XM_011524981.1:c.92A>G	XP_011523283.1:p.Lys31Arg
XM_011524982.1:c.92A>G	XP_011523284.1:p.Lys31Arg
XR_934501.1:n.310A>G
XR_934502.1:n.310A>G
XM_011524982.2:c.92A>G	XP_011523284.1:p.Lys31Arg
XR_001752557.1:n.310A>G
NM_017921.4:c.92A>G MANE Select	NP_060391.2:p.Lys31Arg
NM_001369698.1:c.92A>G	NP_001356627.1:p.Lys31Arg