Canonical Allele Identifier: CA394187200

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 554488
• ClinVar RCV Id: RCV000670131 ; RCV001868240
• dbSNP Id: rs763678034
• MyVariant Identifiers: chr16:g.1412049G>T (hg19) ; chr16:g.1362048G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362048G>T , CM000678.2:g.1362048G>T	GRCh38
NC_000016.9:g.1412049G>T , CM000678.1:g.1412049G>T	GRCh37
NC_000016.8:g.1352050G>T	NCBI36
NG_016985.1:g.15150G>T
NG_033129.1:g.57657C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.427G>T
ENST00000529110.2:c.412G>T	ENSP00000435349.2:p.Glu138Ter
ENST00000529957.6:n.386G>T
ENST00000683366.1:c.*60G>T	ENSP00000507283.1:n.*60G>T
ENST00000683887.1:c.376G>T	ENSP00000506886.1:p.Glu126Ter
ENST00000684100.1:n.322G>T
ENST00000684126.1:n.386G>T
ENST00000684688.1:n.953G>T
ENST00000204679.9:c.328G>T MANE Select	ENSP00000204679.4:p.Glu110Ter
ENST00000204679.8:c.328G>T	ENSP00000204679.4:p.Glu110Ter
ENST00000526820.5:c.*230G>T	ENSP00000434413.1:n.*230G>T
ENST00000527076.1:n.1344G>T
ENST00000527168.5:n.364G>T
ENST00000529110.1:c.395G>T
ENST00000529957.5:n.427G>T
NM_032520.4:c.328G>T	NP_115909.1:p.Glu110Ter
XM_017023782.1:c.376G>T	XP_016879271.1:p.Glu126Ter
XM_017023783.1:c.-33G>T	XP_016879272.1:n.-33G>T
NM_032520.5:c.328G>T MANE Select	NP_115909.1:p.Glu110Ter