Canonical Allele Identifier: CA394187046

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411947G>T (hg19) ; chr16:g.1361946G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361946G>T , CM000678.2:g.1361946G>T	GRCh38
NC_000016.9:g.1411947G>T , CM000678.1:g.1411947G>T	GRCh37
NC_000016.8:g.1351948G>T	NCBI36
NG_016985.1:g.15048G>T
NG_033129.1:g.57759C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.407G>T
ENST00000529110.2:c.392G>T	ENSP00000435349.2:p.Gly131Val
ENST00000529957.6:n.366G>T
ENST00000683366.1:c.*40G>T	ENSP00000507283.1:n.*40G>T
ENST00000683887.1:c.356G>T	ENSP00000506886.1:p.Gly119Val
ENST00000684100.1:n.302G>T
ENST00000684126.1:n.366G>T
ENST00000684688.1:n.933G>T
ENST00000204679.9:c.308G>T MANE Select	ENSP00000204679.4:p.Gly103Val
ENST00000204679.8:c.308G>T	ENSP00000204679.4:p.Gly103Val
ENST00000526820.5:c.*210G>T	ENSP00000434413.1:n.*210G>T
ENST00000527076.1:n.1324G>T
ENST00000527168.5:n.344G>T
ENST00000529110.1:c.375G>T
ENST00000529957.5:n.407G>T
NM_032520.4:c.308G>T	NP_115909.1:p.Gly103Val
XM_017023782.1:c.356G>T	XP_016879271.1:p.Gly119Val
XM_017023783.1:c.-53G>T	XP_016879272.1:n.-53G>T
NM_032520.5:c.308G>T MANE Select	NP_115909.1:p.Gly103Val