Canonical Allele Identifier: CA394188720

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412853A>T (hg19) ; chr16:g.1362852A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362852A>T , CM000678.2:g.1362852A>T	GRCh38
NC_000016.9:g.1412853A>T , CM000678.1:g.1412853A>T	GRCh37
NC_000016.8:g.1352854A>T	NCBI36
NG_016985.1:g.15954A>T
NG_033129.1:g.56853T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.868A>T
ENST00000529110.2:c.853A>T	ENSP00000435349.2:p.Lys285Ter
ENST00000529957.6:n.827A>T
ENST00000683366.1:c.*501A>T	ENSP00000507283.1:n.*501A>T
ENST00000683887.1:c.817A>T	ENSP00000506886.1:p.Lys273Ter
ENST00000684100.1:n.763A>T
ENST00000684126.1:n.903A>T
ENST00000684688.1:n.1394A>T
ENST00000204679.9:c.769A>T MANE Select	ENSP00000204679.4:p.Lys257Ter
ENST00000204679.8:c.769A>T	ENSP00000204679.4:p.Lys257Ter
ENST00000527076.1:n.1992A>T
ENST00000527168.5:n.936A>T
ENST00000529957.5:n.868A>T
NM_032520.4:c.769A>T	NP_115909.1:p.Lys257Ter
XM_017023782.1:c.817A>T	XP_016879271.1:p.Lys273Ter
XM_017023783.1:c.409A>T	XP_016879272.1:p.Lys137Ter
NM_032520.5:c.769A>T MANE Select	NP_115909.1:p.Lys257Ter