Canonical Allele Identifier: CA394187040

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411946G>T (hg19) ; chr16:g.1361945G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361945G>T , CM000678.2:g.1361945G>T	GRCh38
NC_000016.9:g.1411946G>T , CM000678.1:g.1411946G>T	GRCh37
NC_000016.8:g.1351947G>T	NCBI36
NG_016985.1:g.15047G>T
NG_033129.1:g.57760C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.406G>T
ENST00000529110.2:c.391G>T	ENSP00000435349.2:p.Gly131Trp
ENST00000529957.6:n.365G>T
ENST00000683366.1:c.*39G>T	ENSP00000507283.1:n.*39G>T
ENST00000683887.1:c.355G>T	ENSP00000506886.1:p.Gly119Trp
ENST00000684100.1:n.301G>T
ENST00000684126.1:n.365G>T
ENST00000684688.1:n.932G>T
ENST00000204679.9:c.307G>T MANE Select	ENSP00000204679.4:p.Gly103Trp
ENST00000204679.8:c.307G>T	ENSP00000204679.4:p.Gly103Trp
ENST00000526820.5:c.*209G>T	ENSP00000434413.1:n.*209G>T
ENST00000527076.1:n.1323G>T
ENST00000527168.5:n.343G>T
ENST00000529110.1:c.374G>T
ENST00000529957.5:n.406G>T
NM_032520.4:c.307G>T	NP_115909.1:p.Gly103Trp
XM_017023782.1:c.355G>T	XP_016879271.1:p.Gly119Trp
XM_017023783.1:c.-54G>T	XP_016879272.1:n.-54G>T
NM_032520.5:c.307G>T MANE Select	NP_115909.1:p.Gly103Trp