Canonical Allele Identifier: CA394187220

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362055-A-T
• MyVariant Identifiers: chr16:g.1412056A>T (hg19) ; chr16:g.1362055A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362055A>T , CM000678.2:g.1362055A>T	GRCh38
NC_000016.9:g.1412056A>T , CM000678.1:g.1412056A>T	GRCh37
NC_000016.8:g.1352057A>T	NCBI36
NG_016985.1:g.15157A>T
NG_033129.1:g.57650T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.434A>T
ENST00000529110.2:c.419A>T	ENSP00000435349.2:p.Glu140Val
ENST00000529957.6:n.393A>T
ENST00000683366.1:c.*67A>T	ENSP00000507283.1:n.*67A>T
ENST00000683887.1:c.383A>T	ENSP00000506886.1:p.Glu128Val
ENST00000684100.1:n.329A>T
ENST00000684126.1:n.393A>T
ENST00000684688.1:n.960A>T
ENST00000204679.9:c.335A>T MANE Select	ENSP00000204679.4:p.Glu112Val
ENST00000204679.8:c.335A>T	ENSP00000204679.4:p.Glu112Val
ENST00000526820.5:c.*237A>T	ENSP00000434413.1:n.*237A>T
ENST00000527076.1:n.1351A>T
ENST00000527168.5:n.371A>T
ENST00000529110.1:c.402A>T
ENST00000529957.5:n.434A>T
NM_032520.4:c.335A>T	NP_115909.1:p.Glu112Val
XM_017023782.1:c.383A>T	XP_016879271.1:p.Glu128Val
XM_017023783.1:c.-26A>T	XP_016879272.1:n.-26A>T
NM_032520.5:c.335A>T MANE Select	NP_115909.1:p.Glu112Val