Canonical Allele Identifier: CA394186788

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411884A>T (hg19) ; chr16:g.1361883A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361883A>T , CM000678.2:g.1361883A>T	GRCh38
NC_000016.9:g.1411884A>T , CM000678.1:g.1411884A>T	GRCh37
NC_000016.8:g.1351885A>T	NCBI36
NG_016985.1:g.14985A>T
NG_033129.1:g.57822T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.344A>T
ENST00000529110.2:c.329A>T	ENSP00000435349.2:p.Glu110Val
ENST00000529957.6:n.303A>T
ENST00000683366.1:c.190A>T	ENSP00000507283.1:p.Ser64Cys
ENST00000683887.1:c.293A>T	ENSP00000506886.1:p.Glu98Val
ENST00000684100.1:n.239A>T
ENST00000684126.1:n.303A>T
ENST00000684688.1:n.870A>T
ENST00000204679.9:c.245A>T MANE Select	ENSP00000204679.4:p.Glu82Val
ENST00000204679.8:c.245A>T	ENSP00000204679.4:p.Glu82Val
ENST00000526820.5:c.*147A>T	ENSP00000434413.1:n.*147A>T
ENST00000527076.1:n.1261A>T
ENST00000527168.5:n.281A>T
ENST00000529110.1:c.312A>T
ENST00000529957.5:n.344A>T
NM_032520.4:c.245A>T	NP_115909.1:p.Glu82Val
XM_017023782.1:c.293A>T	XP_016879271.1:p.Glu98Val
XM_017023783.1:c.-116A>T	XP_016879272.1:n.-116A>T
NM_032520.5:c.245A>T MANE Select	NP_115909.1:p.Glu82Val