Canonical Allele Identifier: CA394187735

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362240-C-T
• MyVariant Identifiers: chr16:g.1412241C>T (hg19) ; chr16:g.1362240C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362240C>T , CM000678.2:g.1362240C>T	GRCh38
NC_000016.9:g.1412241C>T , CM000678.1:g.1412241C>T	GRCh37
NC_000016.8:g.1352242C>T	NCBI36
NG_016985.1:g.15342C>T
NG_033129.1:g.57465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.545C>T
ENST00000529110.2:c.530C>T	ENSP00000435349.2:p.Ala177Val
ENST00000529957.6:n.504C>T
ENST00000683366.1:c.*178C>T	ENSP00000507283.1:n.*178C>T
ENST00000683887.1:c.494C>T	ENSP00000506886.1:p.Ala165Val
ENST00000684100.1:n.440C>T
ENST00000684126.1:n.504C>T
ENST00000684688.1:n.1071C>T
ENST00000204679.9:c.446C>T MANE Select	ENSP00000204679.4:p.Ala149Val
ENST00000204679.8:c.446C>T	ENSP00000204679.4:p.Ala149Val
ENST00000527076.1:n.1462C>T
ENST00000527168.5:n.482C>T
ENST00000529110.1:c.513C>T
ENST00000529957.5:n.545C>T
NM_032520.4:c.446C>T	NP_115909.1:p.Ala149Val
XM_017023782.1:c.494C>T	XP_016879271.1:p.Ala165Val
XM_017023783.1:c.86C>T	XP_016879272.1:p.Ala29Val
NM_032520.5:c.446C>T MANE Select	NP_115909.1:p.Ala149Val