Canonical Allele Identifier: CA394188666

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412827C>T (hg19) ; chr16:g.1362826C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362826C>T , CM000678.2:g.1362826C>T	GRCh38
NC_000016.9:g.1412827C>T , CM000678.1:g.1412827C>T	GRCh37
NC_000016.8:g.1352828C>T	NCBI36
NG_016985.1:g.15928C>T
NG_033129.1:g.56879G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.842C>T
ENST00000529110.2:c.827C>T	ENSP00000435349.2:p.Ala276Val
ENST00000529957.6:n.801C>T
ENST00000683366.1:c.*475C>T	ENSP00000507283.1:n.*475C>T
ENST00000683887.1:c.791C>T	ENSP00000506886.1:p.Ala264Val
ENST00000684100.1:n.737C>T
ENST00000684126.1:n.877C>T
ENST00000684688.1:n.1368C>T
ENST00000204679.9:c.743C>T MANE Select	ENSP00000204679.4:p.Ala248Val
ENST00000204679.8:c.743C>T	ENSP00000204679.4:p.Ala248Val
ENST00000527076.1:n.1966C>T
ENST00000527168.5:n.910C>T
ENST00000529957.5:n.842C>T
NM_032520.4:c.743C>T	NP_115909.1:p.Ala248Val
XM_017023782.1:c.791C>T	XP_016879271.1:p.Ala264Val
XM_017023783.1:c.383C>T	XP_016879272.1:p.Ala128Val
NM_032520.5:c.743C>T MANE Select	NP_115909.1:p.Ala248Val