Canonical Allele Identifier: CA394188536

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412688A>T (hg19) ; chr16:g.1362687A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362687A>T , CM000678.2:g.1362687A>T	GRCh38
NC_000016.9:g.1412688A>T , CM000678.1:g.1412688A>T	GRCh37
NC_000016.8:g.1352689A>T	NCBI36
NG_016985.1:g.15789A>T
NG_033129.1:g.57018T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.785A>T
ENST00000529110.2:c.770A>T	ENSP00000435349.2:p.Gln257Leu
ENST00000529957.6:n.744A>T
ENST00000683366.1:c.*418A>T	ENSP00000507283.1:n.*418A>T
ENST00000683887.1:c.734A>T	ENSP00000506886.1:p.Gln245Leu
ENST00000684100.1:n.680A>T
ENST00000684126.1:n.820A>T
ENST00000684688.1:n.1311A>T
ENST00000204679.9:c.686A>T MANE Select	ENSP00000204679.4:p.Gln229Leu
ENST00000204679.8:c.686A>T	ENSP00000204679.4:p.Gln229Leu
ENST00000527076.1:n.1909A>T
ENST00000527168.5:n.853A>T
ENST00000529957.5:n.785A>T
NM_032520.4:c.686A>T	NP_115909.1:p.Gln229Leu
XM_017023782.1:c.734A>T	XP_016879271.1:p.Gln245Leu
XM_017023783.1:c.326A>T	XP_016879272.1:p.Gln109Leu
NM_032520.5:c.686A>T MANE Select	NP_115909.1:p.Gln229Leu