Canonical Allele Identifier: CA394188604

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412722G>T (hg19) ; chr16:g.1362721G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362721G>T , CM000678.2:g.1362721G>T	GRCh38
NC_000016.9:g.1412722G>T , CM000678.1:g.1412722G>T	GRCh37
NC_000016.8:g.1352723G>T	NCBI36
NG_016985.1:g.15823G>T
NG_033129.1:g.56984C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.819G>T
ENST00000529110.2:c.804G>T	ENSP00000435349.2:p.Glu268Asp
ENST00000529957.6:n.778G>T
ENST00000683366.1:c.*452G>T	ENSP00000507283.1:n.*452G>T
ENST00000683887.1:c.768G>T	ENSP00000506886.1:p.Glu256Asp
ENST00000684100.1:n.714G>T
ENST00000684126.1:n.854G>T
ENST00000684688.1:n.1345G>T
ENST00000204679.9:c.720G>T MANE Select	ENSP00000204679.4:p.Glu240Asp
ENST00000204679.8:c.720G>T	ENSP00000204679.4:p.Glu240Asp
ENST00000527076.1:n.1943G>T
ENST00000527168.5:n.887G>T
ENST00000529957.5:n.819G>T
NM_032520.4:c.720G>T	NP_115909.1:p.Glu240Asp
XM_017023782.1:c.768G>T	XP_016879271.1:p.Glu256Asp
XM_017023783.1:c.360G>T	XP_016879272.1:p.Glu120Asp
NM_032520.5:c.720G>T MANE Select	NP_115909.1:p.Glu240Asp