Canonical Allele Identifier: CA394186909

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411911A>T (hg19) ; chr16:g.1361910A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361910A>T , CM000678.2:g.1361910A>T	GRCh38
NC_000016.9:g.1411911A>T , CM000678.1:g.1411911A>T	GRCh37
NC_000016.8:g.1351912A>T	NCBI36
NG_016985.1:g.15012A>T
NG_033129.1:g.57795T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.371A>T
ENST00000529110.2:c.356A>T	ENSP00000435349.2:p.Gln119Leu
ENST00000529957.6:n.330A>T
ENST00000683366.1:c.*4A>T	ENSP00000507283.1:n.*4A>T
ENST00000683887.1:c.320A>T	ENSP00000506886.1:p.Gln107Leu
ENST00000684100.1:n.266A>T
ENST00000684126.1:n.330A>T
ENST00000684688.1:n.897A>T
ENST00000204679.9:c.272A>T MANE Select	ENSP00000204679.4:p.Gln91Leu
ENST00000204679.8:c.272A>T	ENSP00000204679.4:p.Gln91Leu
ENST00000526820.5:c.*174A>T	ENSP00000434413.1:n.*174A>T
ENST00000527076.1:n.1288A>T
ENST00000527168.5:n.308A>T
ENST00000529110.1:c.339A>T
ENST00000529957.5:n.371A>T
NM_032520.4:c.272A>T	NP_115909.1:p.Gln91Leu
XM_017023782.1:c.320A>T	XP_016879271.1:p.Gln107Leu
XM_017023783.1:c.-89A>T	XP_016879272.1:n.-89A>T
NM_032520.5:c.272A>T MANE Select	NP_115909.1:p.Gln91Leu