Canonical Allele Identifier: CA394187849

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412270T>A (hg19) ; chr16:g.1362269T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362269T>A , CM000678.2:g.1362269T>A	GRCh38
NC_000016.9:g.1412270T>A , CM000678.1:g.1412270T>A	GRCh37
NC_000016.8:g.1352271T>A	NCBI36
NG_016985.1:g.15371T>A
NG_033129.1:g.57436A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.574T>A
ENST00000529110.2:c.559T>A	ENSP00000435349.2:p.Tyr187Asn
ENST00000529957.6:n.533T>A
ENST00000683366.1:c.*207T>A	ENSP00000507283.1:n.*207T>A
ENST00000683887.1:c.523T>A	ENSP00000506886.1:p.Tyr175Asn
ENST00000684100.1:n.469T>A
ENST00000684126.1:n.533T>A
ENST00000684688.1:n.1100T>A
ENST00000204679.9:c.475T>A MANE Select	ENSP00000204679.4:p.Tyr159Asn
ENST00000204679.8:c.475T>A	ENSP00000204679.4:p.Tyr159Asn
ENST00000527076.1:n.1491T>A
ENST00000527168.5:n.511T>A
ENST00000529110.1:c.542T>A
ENST00000529957.5:n.574T>A
NM_032520.4:c.475T>A	NP_115909.1:p.Tyr159Asn
XM_017023782.1:c.523T>A	XP_016879271.1:p.Tyr175Asn
XM_017023783.1:c.115T>A	XP_016879272.1:p.Tyr39Asn
NM_032520.5:c.475T>A MANE Select	NP_115909.1:p.Tyr159Asn