Canonical Allele Identifier: CA16609436

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 397575
• ClinVar RCV Id: RCV000825527 ; RCV000449610
• dbSNP Id: rs1060499690
• MyVariant Identifiers: chr16:g.1412045G>A (hg19) ; chr16:g.1362044G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362044G>A , CM000678.2:g.1362044G>A	GRCh38
NC_000016.9:g.1412045G>A , CM000678.1:g.1412045G>A	GRCh37
NC_000016.8:g.1352046G>A	NCBI36
NG_016985.1:g.15146G>A
NG_033129.1:g.57661C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.423G>A
ENST00000529110.2:c.408G>A	ENSP00000435349.2:p.Trp136Ter
ENST00000529957.6:n.382G>A
ENST00000683366.1:c.*56G>A	ENSP00000507283.1:n.*56G>A
ENST00000683887.1:c.372G>A	ENSP00000506886.1:p.Trp124Ter
ENST00000684100.1:n.318G>A
ENST00000684126.1:n.382G>A
ENST00000684688.1:n.949G>A
ENST00000204679.9:c.324G>A MANE Select	ENSP00000204679.4:p.Trp108Ter
ENST00000204679.8:c.324G>A	ENSP00000204679.4:p.Trp108Ter
ENST00000526820.5:c.*226G>A	ENSP00000434413.1:n.*226G>A
ENST00000527076.1:n.1340G>A
ENST00000527168.5:n.360G>A
ENST00000529110.1:c.391G>A
ENST00000529957.5:n.423G>A
NM_032520.4:c.324G>A	NP_115909.1:p.Trp108Ter
XM_017023782.1:c.372G>A	XP_016879271.1:p.Trp124Ter
XM_017023783.1:c.-37G>A	XP_016879272.1:n.-37G>A
NM_032520.5:c.324G>A MANE Select	NP_115909.1:p.Trp108Ter