Canonical Allele Identifier: CA394188034

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412455T>A (hg19) ; chr16:g.1362454T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362454T>A , CM000678.2:g.1362454T>A	GRCh38
NC_000016.9:g.1412455T>A , CM000678.1:g.1412455T>A	GRCh37
NC_000016.8:g.1352456T>A	NCBI36
NG_016985.1:g.15556T>A
NG_033129.1:g.57251A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.628T>A
ENST00000529110.2:c.613T>A	ENSP00000435349.2:p.Tyr205Asn
ENST00000529957.6:n.587T>A
ENST00000683366.1:c.*261T>A	ENSP00000507283.1:n.*261T>A
ENST00000683887.1:c.577T>A	ENSP00000506886.1:p.Tyr193Asn
ENST00000684100.1:n.523T>A
ENST00000684126.1:n.587T>A
ENST00000684688.1:n.1154T>A
ENST00000204679.9:c.529T>A MANE Select	ENSP00000204679.4:p.Tyr177Asn
ENST00000204679.8:c.529T>A	ENSP00000204679.4:p.Tyr177Asn
ENST00000527076.1:n.1676T>A
ENST00000527168.5:n.696T>A
ENST00000529957.5:n.628T>A
NM_032520.4:c.529T>A	NP_115909.1:p.Tyr177Asn
XM_017023782.1:c.577T>A	XP_016879271.1:p.Tyr193Asn
XM_017023783.1:c.169T>A	XP_016879272.1:p.Tyr57Asn
NM_032520.5:c.529T>A MANE Select	NP_115909.1:p.Tyr177Asn