Canonical Allele Identifier: CA394188322

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2853261
• ClinVar RCV Id: RCV003695941
• dbSNP Id: rs2034919426
• COSMIC: COSM1684948
• MyVariant Identifiers: chr16:g.1412518G>T (hg19) ; chr16:g.1362517G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362517G>T , CM000678.2:g.1362517G>T	GRCh38
NC_000016.9:g.1412518G>T , CM000678.1:g.1412518G>T	GRCh37
NC_000016.8:g.1352519G>T	NCBI36
NG_016985.1:g.15619G>T
NG_033129.1:g.57188C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.691G>T
ENST00000529110.2:c.676G>T	ENSP00000435349.2:p.Glu226Ter
ENST00000529957.6:n.650G>T
ENST00000683366.1:c.*324G>T	ENSP00000507283.1:n.*324G>T
ENST00000683887.1:c.640G>T	ENSP00000506886.1:p.Glu214Ter
ENST00000684100.1:n.586G>T
ENST00000684126.1:n.650G>T
ENST00000684688.1:n.1217G>T
ENST00000204679.9:c.592G>T MANE Select	ENSP00000204679.4:p.Glu198Ter
ENST00000204679.8:c.592G>T	ENSP00000204679.4:p.Glu198Ter
ENST00000527076.1:n.1739G>T
ENST00000527168.5:n.759G>T
ENST00000529957.5:n.691G>T
NM_032520.4:c.592G>T	NP_115909.1:p.Glu198Ter
XM_017023782.1:c.640G>T	XP_016879271.1:p.Glu214Ter
XM_017023783.1:c.232G>T	XP_016879272.1:p.Glu78Ter
NM_032520.5:c.592G>T MANE Select	NP_115909.1:p.Glu198Ter