Canonical Allele Identifier: CA394187584

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412208T>G (hg19) ; chr16:g.1362207T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362207T>G , CM000678.2:g.1362207T>G	GRCh38
NC_000016.9:g.1412208T>G , CM000678.1:g.1412208T>G	GRCh37
NC_000016.8:g.1352209T>G	NCBI36
NG_016985.1:g.15309T>G
NG_033129.1:g.57498A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.512T>G
ENST00000529110.2:c.497T>G	ENSP00000435349.2:p.Val166Gly
ENST00000529957.6:n.471T>G
ENST00000683366.1:c.*145T>G	ENSP00000507283.1:n.*145T>G
ENST00000683887.1:c.461T>G	ENSP00000506886.1:p.Val154Gly
ENST00000684100.1:n.407T>G
ENST00000684126.1:n.471T>G
ENST00000684688.1:n.1038T>G
ENST00000204679.9:c.413T>G MANE Select	ENSP00000204679.4:p.Val138Gly
ENST00000204679.8:c.413T>G	ENSP00000204679.4:p.Val138Gly
ENST00000527076.1:n.1429T>G
ENST00000527168.5:n.449T>G
ENST00000529110.1:c.480T>G
ENST00000529957.5:n.512T>G
NM_032520.4:c.413T>G	NP_115909.1:p.Val138Gly
XM_017023782.1:c.461T>G	XP_016879271.1:p.Val154Gly
XM_017023783.1:c.53T>G	XP_016879272.1:p.Val18Gly
NM_032520.5:c.413T>G MANE Select	NP_115909.1:p.Val138Gly