Canonical Allele Identifier: CA394188776

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412881A>T (hg19) ; chr16:g.1362880A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362880A>T , CM000678.2:g.1362880A>T	GRCh38
NC_000016.9:g.1412881A>T , CM000678.1:g.1412881A>T	GRCh37
NC_000016.8:g.1352882A>T	NCBI36
NG_016985.1:g.15982A>T
NG_033129.1:g.56825T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.896A>T
ENST00000529110.2:c.881A>T	ENSP00000435349.2:p.His294Leu
ENST00000529957.6:n.855A>T
ENST00000683366.1:c.*529A>T	ENSP00000507283.1:n.*529A>T
ENST00000683887.1:c.845A>T	ENSP00000506886.1:p.His282Leu
ENST00000684100.1:n.791A>T
ENST00000684126.1:n.931A>T
ENST00000684688.1:n.1422A>T
ENST00000204679.9:c.797A>T MANE Select	ENSP00000204679.4:p.His266Leu
ENST00000204679.8:c.797A>T	ENSP00000204679.4:p.His266Leu
ENST00000527076.1:n.2020A>T
ENST00000527168.5:n.964A>T
ENST00000529957.5:n.896A>T
NM_032520.4:c.797A>T	NP_115909.1:p.His266Leu
XM_017023782.1:c.845A>T	XP_016879271.1:p.His282Leu
XM_017023783.1:c.437A>T	XP_016879272.1:p.His146Leu
NM_032520.5:c.797A>T MANE Select	NP_115909.1:p.His266Leu