Canonical Allele Identifier: CA394186951

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411920A>T (hg19) ; chr16:g.1361919A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361919A>T , CM000678.2:g.1361919A>T	GRCh38
NC_000016.9:g.1411920A>T , CM000678.1:g.1411920A>T	GRCh37
NC_000016.8:g.1351921A>T	NCBI36
NG_016985.1:g.15021A>T
NG_033129.1:g.57786T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.380A>T
ENST00000529110.2:c.365A>T	ENSP00000435349.2:p.Gln122Leu
ENST00000529957.6:n.339A>T
ENST00000683366.1:c.*13A>T	ENSP00000507283.1:n.*13A>T
ENST00000683887.1:c.329A>T	ENSP00000506886.1:p.Gln110Leu
ENST00000684100.1:n.275A>T
ENST00000684126.1:n.339A>T
ENST00000684688.1:n.906A>T
ENST00000204679.9:c.281A>T MANE Select	ENSP00000204679.4:p.Gln94Leu
ENST00000204679.8:c.281A>T	ENSP00000204679.4:p.Gln94Leu
ENST00000526820.5:c.*183A>T	ENSP00000434413.1:n.*183A>T
ENST00000527076.1:n.1297A>T
ENST00000527168.5:n.317A>T
ENST00000529110.1:c.348A>T
ENST00000529957.5:n.380A>T
NM_032520.4:c.281A>T	NP_115909.1:p.Gln94Leu
XM_017023782.1:c.329A>T	XP_016879271.1:p.Gln110Leu
XM_017023783.1:c.-80A>T	XP_016879272.1:n.-80A>T
NM_032520.5:c.281A>T MANE Select	NP_115909.1:p.Gln94Leu