Canonical Allele Identifier: CA394186743

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1724640
• ClinVar RCV Id: RCV002309908
• MyVariant Identifiers: chr16:g.1411877A>T (hg19) ; chr16:g.1361876A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361876A>T , CM000678.2:g.1361876A>T	GRCh38
NC_000016.9:g.1411877A>T , CM000678.1:g.1411877A>T	GRCh37
NC_000016.8:g.1351878A>T	NCBI36
NG_016985.1:g.14978A>T
NG_033129.1:g.57829T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.337A>T
ENST00000529110.2:c.322A>T	ENSP00000435349.2:p.Lys108Ter
ENST00000529957.6:n.296A>T
ENST00000683366.1:c.183A>T	ENSP00000507283.1:p.Thr61=
ENST00000683887.1:c.286A>T	ENSP00000506886.1:p.Lys96Ter
ENST00000684100.1:n.232A>T
ENST00000684126.1:n.296A>T
ENST00000684688.1:n.863A>T
ENST00000204679.9:c.238A>T MANE Select	ENSP00000204679.4:p.Lys80Ter
ENST00000204679.8:c.238A>T	ENSP00000204679.4:p.Lys80Ter
ENST00000526820.5:c.*140A>T	ENSP00000434413.1:n.*140A>T
ENST00000527076.1:n.1254A>T
ENST00000527168.5:n.274A>T
ENST00000529110.1:c.305A>T
ENST00000529957.5:n.337A>T
NM_032520.4:c.238A>T	NP_115909.1:p.Lys80Ter
XM_017023782.1:c.286A>T	XP_016879271.1:p.Lys96Ter
XM_017023783.1:c.-123A>T	XP_016879272.1:n.-123A>T
NM_032520.5:c.238A>T MANE Select	NP_115909.1:p.Lys80Ter