Canonical Allele Identifier: CA394187174

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412044G>T (hg19) ; chr16:g.1362043G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362043G>T , CM000678.2:g.1362043G>T	GRCh38
NC_000016.9:g.1412044G>T , CM000678.1:g.1412044G>T	GRCh37
NC_000016.8:g.1352045G>T	NCBI36
NG_016985.1:g.15145G>T
NG_033129.1:g.57662C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.422G>T
ENST00000529110.2:c.407G>T	ENSP00000435349.2:p.Trp136Leu
ENST00000529957.6:n.381G>T
ENST00000683366.1:c.*55G>T	ENSP00000507283.1:n.*55G>T
ENST00000683887.1:c.371G>T	ENSP00000506886.1:p.Trp124Leu
ENST00000684100.1:n.317G>T
ENST00000684126.1:n.381G>T
ENST00000684688.1:n.948G>T
ENST00000204679.9:c.323G>T MANE Select	ENSP00000204679.4:p.Trp108Leu
ENST00000204679.8:c.323G>T	ENSP00000204679.4:p.Trp108Leu
ENST00000526820.5:c.*225G>T	ENSP00000434413.1:n.*225G>T
ENST00000527076.1:n.1339G>T
ENST00000527168.5:n.359G>T
ENST00000529110.1:c.390G>T
ENST00000529957.5:n.422G>T
NM_032520.4:c.323G>T	NP_115909.1:p.Trp108Leu
XM_017023782.1:c.371G>T	XP_016879271.1:p.Trp124Leu
XM_017023783.1:c.-38G>T	XP_016879272.1:n.-38G>T
NM_032520.5:c.323G>T MANE Select	NP_115909.1:p.Trp108Leu