Canonical Allele Identifier: CA2201615441

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362867T= , CM000678.2:g.1362867T=	GRCh38
NC_000016.9:g.1412868T= , CM000678.1:g.1412868T=	GRCh37
NC_000016.8:g.1352869T=	NCBI36
NG_016985.1:g.15969T=
NG_033129.1:g.56838A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.883T=
ENST00000529110.2:c.868T=	ENSP00000435349.2:p.Leu290=
ENST00000529957.6:n.842T=
ENST00000683366.1:c.*516T=	ENSP00000507283.1:n.*516T=
ENST00000683887.1:c.832T=	ENSP00000506886.1:p.Leu278=
ENST00000684100.1:n.778T=
ENST00000684126.1:n.918T=
ENST00000684688.1:n.1409T=
ENST00000204679.9:c.784T= MANE Select	ENSP00000204679.4:p.Leu262=
ENST00000204679.8:c.784T=	ENSP00000204679.4:p.Leu262=
ENST00000527076.1:n.2007T=
ENST00000527168.5:n.951T=
ENST00000529957.5:n.883T=
NM_032520.4:c.784T=	NP_115909.1:p.Leu262=
XM_017023782.1:c.832T=	XP_016879271.1:p.Leu278=
XM_017023783.1:c.424T=	XP_016879272.1:p.Leu142=
NM_032520.5:c.784T= MANE Select	NP_115909.1:p.Leu262=