Canonical Allele Identifier: CA394188769

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412878A>T (hg19) ; chr16:g.1362877A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362877A>T , CM000678.2:g.1362877A>T	GRCh38
NC_000016.9:g.1412878A>T , CM000678.1:g.1412878A>T	GRCh37
NC_000016.8:g.1352879A>T	NCBI36
NG_016985.1:g.15979A>T
NG_033129.1:g.56828T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.893A>T
ENST00000529110.2:c.878A>T	ENSP00000435349.2:p.Gln293Leu
ENST00000529957.6:n.852A>T
ENST00000683366.1:c.*526A>T	ENSP00000507283.1:n.*526A>T
ENST00000683887.1:c.842A>T	ENSP00000506886.1:p.Gln281Leu
ENST00000684100.1:n.788A>T
ENST00000684126.1:n.928A>T
ENST00000684688.1:n.1419A>T
ENST00000204679.9:c.794A>T MANE Select	ENSP00000204679.4:p.Gln265Leu
ENST00000204679.8:c.794A>T	ENSP00000204679.4:p.Gln265Leu
ENST00000527076.1:n.2017A>T
ENST00000527168.5:n.961A>T
ENST00000529957.5:n.893A>T
NM_032520.4:c.794A>T	NP_115909.1:p.Gln265Leu
XM_017023782.1:c.842A>T	XP_016879271.1:p.Gln281Leu
XM_017023783.1:c.434A>T	XP_016879272.1:p.Gln145Leu
NM_032520.5:c.794A>T MANE Select	NP_115909.1:p.Gln265Leu