Canonical Allele Identifier: CA394188544

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1725822
• ClinVar RCV Id: RCV002309506
• MyVariant Identifiers: chr16:g.1412693G>T (hg19) ; chr16:g.1362692G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362692G>T , CM000678.2:g.1362692G>T	GRCh38
NC_000016.9:g.1412693G>T , CM000678.1:g.1412693G>T	GRCh37
NC_000016.8:g.1352694G>T	NCBI36
NG_016985.1:g.15794G>T
NG_033129.1:g.57013C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.790G>T
ENST00000529110.2:c.775G>T	ENSP00000435349.2:p.Glu259Ter
ENST00000529957.6:n.749G>T
ENST00000683366.1:c.*423G>T	ENSP00000507283.1:n.*423G>T
ENST00000683887.1:c.739G>T	ENSP00000506886.1:p.Glu247Ter
ENST00000684100.1:n.685G>T
ENST00000684126.1:n.825G>T
ENST00000684688.1:n.1316G>T
ENST00000204679.9:c.691G>T MANE Select	ENSP00000204679.4:p.Glu231Ter
ENST00000204679.8:c.691G>T	ENSP00000204679.4:p.Glu231Ter
ENST00000527076.1:n.1914G>T
ENST00000527168.5:n.858G>T
ENST00000529957.5:n.790G>T
NM_032520.4:c.691G>T	NP_115909.1:p.Glu231Ter
XM_017023782.1:c.739G>T	XP_016879271.1:p.Glu247Ter
XM_017023783.1:c.331G>T	XP_016879272.1:p.Glu111Ter
NM_032520.5:c.691G>T MANE Select	NP_115909.1:p.Glu231Ter