Canonical Allele Identifier: CA394186812

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411889T>G (hg19) ; chr16:g.1361888T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361888T>G , CM000678.2:g.1361888T>G	GRCh38
NC_000016.9:g.1411889T>G , CM000678.1:g.1411889T>G	GRCh37
NC_000016.8:g.1351890T>G	NCBI36
NG_016985.1:g.14990T>G
NG_033129.1:g.57817A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.349T>G
ENST00000529110.2:c.334T>G	ENSP00000435349.2:p.Cys112Gly
ENST00000529957.6:n.308T>G
ENST00000683366.1:c.195T>G	ENSP00000507283.1:p.Ser65=
ENST00000683887.1:c.298T>G	ENSP00000506886.1:p.Cys100Gly
ENST00000684100.1:n.244T>G
ENST00000684126.1:n.308T>G
ENST00000684688.1:n.875T>G
ENST00000204679.9:c.250T>G MANE Select	ENSP00000204679.4:p.Cys84Gly
ENST00000204679.8:c.250T>G	ENSP00000204679.4:p.Cys84Gly
ENST00000526820.5:c.*152T>G	ENSP00000434413.1:n.*152T>G
ENST00000527076.1:n.1266T>G
ENST00000527168.5:n.286T>G
ENST00000529110.1:c.317T>G
ENST00000529957.5:n.349T>G
NM_032520.4:c.250T>G	NP_115909.1:p.Cys84Gly
XM_017023782.1:c.298T>G	XP_016879271.1:p.Cys100Gly
XM_017023783.1:c.-111T>G	XP_016879272.1:n.-111T>G
NM_032520.5:c.250T>G MANE Select	NP_115909.1:p.Cys84Gly