Canonical Allele Identifier: CA394187821

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412264T>A (hg19) ; chr16:g.1362263T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362263T>A , CM000678.2:g.1362263T>A	GRCh38
NC_000016.9:g.1412264T>A , CM000678.1:g.1412264T>A	GRCh37
NC_000016.8:g.1352265T>A	NCBI36
NG_016985.1:g.15365T>A
NG_033129.1:g.57442A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.568T>A
ENST00000529110.2:c.553T>A	ENSP00000435349.2:p.Cys185Ser
ENST00000529957.6:n.527T>A
ENST00000683366.1:c.*201T>A	ENSP00000507283.1:n.*201T>A
ENST00000683887.1:c.517T>A	ENSP00000506886.1:p.Cys173Ser
ENST00000684100.1:n.463T>A
ENST00000684126.1:n.527T>A
ENST00000684688.1:n.1094T>A
ENST00000204679.9:c.469T>A MANE Select	ENSP00000204679.4:p.Cys157Ser
ENST00000204679.8:c.469T>A	ENSP00000204679.4:p.Cys157Ser
ENST00000527076.1:n.1485T>A
ENST00000527168.5:n.505T>A
ENST00000529110.1:c.536T>A
ENST00000529957.5:n.568T>A
NM_032520.4:c.469T>A	NP_115909.1:p.Cys157Ser
XM_017023782.1:c.517T>A	XP_016879271.1:p.Cys173Ser
XM_017023783.1:c.109T>A	XP_016879272.1:p.Cys37Ser
NM_032520.5:c.469T>A MANE Select	NP_115909.1:p.Cys157Ser