Canonical Allele Identifier: CA8838535

Gene: NPLOC4

Linked Data

• dbSNP Id: rs771811467
• ExAC: 17:79596744 C / T
• gnomAD v2: 17-79596744-C-T
• gnomAD v4: 17-81629718-C-T
• MyVariant Identifiers: chr17:g.79596744C>T (hg19) ; chr17:g.81629718C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81629718C>T , CM000679.2:g.81629718C>T	GRCh38
NC_000017.10:g.79596744C>T , CM000679.1:g.79596744C>T	GRCh37
NC_000017.9:g.77207149C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000705719.1:c.225+7G>A	ENSP00000516165.1:n.225+7G>A
ENST00000331134.11:c.96+7G>A MANE Select	ENSP00000331487.5:n.96+7G>A
ENST00000331134.10:c.96+7G>A	ENSP00000331487.5:n.96+7G>A
ENST00000374747.9:c.96+7G>A	ENSP00000363879.5:n.96+7G>A
ENST00000570300.1:n.117+7G>A
ENST00000574897.5:c.96+7G>A	ENSP00000461543.1:n.96+7G>A
ENST00000625705.1:c.93+7G>A	ENSP00000486640.1:n.93+7G>A
NM_017921.3:c.96+7G>A	NP_060391.2:n.96+7G>A
XM_011524979.1:c.96+7G>A	XP_011523281.1:n.96+7G>A
XM_011524980.1:c.96+7G>A	XP_011523282.1:n.96+7G>A
XM_011524981.1:c.96+7G>A	XP_011523283.1:n.96+7G>A
XM_011524982.1:c.96+7G>A	XP_011523284.1:n.96+7G>A
XR_934501.1:n.314+7G>A
XR_934502.1:n.314+7G>A
XM_011524982.2:c.96+7G>A	XP_011523284.1:n.96+7G>A
XR_001752557.1:n.314+7G>A
NM_017921.4:c.96+7G>A MANE Select	NP_060391.2:n.96+7G>A
NM_001369698.1:c.96+7G>A	NP_001356627.1:n.96+7G>A