Canonical Allele Identifier: CA8838545

Gene: NPLOC4

Linked Data

• dbSNP Id: rs752040425
• ExAC: 17:79596828 T / C
• gnomAD v2: 17-79596828-T-C
• gnomAD v4: 17-81629802-T-C
• MyVariant Identifiers: chr17:g.79596828T>C (hg19) ; chr17:g.81629802T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81629802T>C , CM000679.2:g.81629802T>C	GRCh38
NC_000017.10:g.79596828T>C , CM000679.1:g.79596828T>C	GRCh37
NC_000017.9:g.77207233T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000705719.1:c.148A>G	ENSP00000516165.1:p.Ile50Val
ENST00000331134.11:c.19A>G MANE Select	ENSP00000331487.5:p.Ile7Val
ENST00000331134.10:c.19A>G	ENSP00000331487.5:p.Ile7Val
ENST00000374747.9:c.19A>G	ENSP00000363879.5:p.Ile7Val
ENST00000570300.1:n.40A>G
ENST00000574897.5:c.19A>G	ENSP00000461543.1:p.Ile7Val
ENST00000625705.1:c.16A>G	ENSP00000486640.1:p.Ile6Val
NM_017921.3:c.19A>G	NP_060391.2:p.Ile7Val
XM_011524979.1:c.19A>G	XP_011523281.1:p.Ile7Val
XM_011524980.1:c.19A>G	XP_011523282.1:p.Ile7Val
XM_011524981.1:c.19A>G	XP_011523283.1:p.Ile7Val
XM_011524982.1:c.19A>G	XP_011523284.1:p.Ile7Val
XR_934501.1:n.237A>G
XR_934502.1:n.237A>G
XM_011524982.2:c.19A>G	XP_011523284.1:p.Ile7Val
XR_001752557.1:n.237A>G
NM_017921.4:c.19A>G MANE Select	NP_060391.2:p.Ile7Val
NM_001369698.1:c.19A>G	NP_001356627.1:p.Ile7Val