Canonical Allele Identifier: CA394187627

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412219T>A (hg19) ; chr16:g.1362218T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362218T>A , CM000678.2:g.1362218T>A	GRCh38
NC_000016.9:g.1412219T>A , CM000678.1:g.1412219T>A	GRCh37
NC_000016.8:g.1352220T>A	NCBI36
NG_016985.1:g.15320T>A
NG_033129.1:g.57487A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.523T>A
ENST00000529110.2:c.508T>A	ENSP00000435349.2:p.Cys170Ser
ENST00000529957.6:n.482T>A
ENST00000683366.1:c.*156T>A	ENSP00000507283.1:n.*156T>A
ENST00000683887.1:c.472T>A	ENSP00000506886.1:p.Cys158Ser
ENST00000684100.1:n.418T>A
ENST00000684126.1:n.482T>A
ENST00000684688.1:n.1049T>A
ENST00000204679.9:c.424T>A MANE Select	ENSP00000204679.4:p.Cys142Ser
ENST00000204679.8:c.424T>A	ENSP00000204679.4:p.Cys142Ser
ENST00000527076.1:n.1440T>A
ENST00000527168.5:n.460T>A
ENST00000529110.1:c.491T>A
ENST00000529957.5:n.523T>A
NM_032520.4:c.424T>A	NP_115909.1:p.Cys142Ser
XM_017023782.1:c.472T>A	XP_016879271.1:p.Cys158Ser
XM_017023783.1:c.64T>A	XP_016879272.1:p.Cys22Ser
NM_032520.5:c.424T>A MANE Select	NP_115909.1:p.Cys142Ser