Canonical Allele Identifier: CA502298165

Gene: NPLOC4

Linked Data

• dbSNP Id: rs1382413391
• gnomAD v2: 17-79596757-C-T
• gnomAD v4: 17-81629731-C-T
• MyVariant Identifiers: chr17:g.79596757C>T (hg19) ; chr17:g.81629731C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81629731C>T , CM000679.2:g.81629731C>T	GRCh38
NC_000017.10:g.79596757C>T , CM000679.1:g.79596757C>T	GRCh37
NC_000017.9:g.77207162C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000705719.1:c.219G>A	ENSP00000516165.1:p.Leu73=
ENST00000331134.11:c.90G>A MANE Select	ENSP00000331487.5:p.Leu30=
ENST00000331134.10:c.90G>A	ENSP00000331487.5:p.Leu30=
ENST00000374747.9:c.90G>A	ENSP00000363879.5:p.Leu30=
ENST00000570300.1:n.111G>A
ENST00000574897.5:c.90G>A	ENSP00000461543.1:p.Leu30=
ENST00000625705.1:c.87G>A	ENSP00000486640.1:p.Leu29=
NM_017921.3:c.90G>A	NP_060391.2:p.Leu30=
XM_011524979.1:c.90G>A	XP_011523281.1:p.Leu30=
XM_011524980.1:c.90G>A	XP_011523282.1:p.Leu30=
XM_011524981.1:c.90G>A	XP_011523283.1:p.Leu30=
XM_011524982.1:c.90G>A	XP_011523284.1:p.Leu30=
XR_934501.1:n.308G>A
XR_934502.1:n.308G>A
XM_011524982.2:c.90G>A	XP_011523284.1:p.Leu30=
XR_001752557.1:n.308G>A
NM_017921.4:c.90G>A MANE Select	NP_060391.2:p.Leu30=
NM_001369698.1:c.90G>A	NP_001356627.1:p.Leu30=