Canonical Allele Identifier: CA394188807

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412898A>T (hg19) ; chr16:g.1362897A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362897A>T , CM000678.2:g.1362897A>T	GRCh38
NC_000016.9:g.1412898A>T , CM000678.1:g.1412898A>T	GRCh37
NC_000016.8:g.1352899A>T	NCBI36
NG_016985.1:g.15999A>T
NG_033129.1:g.56808T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.913A>T
ENST00000529110.2:c.898A>T	ENSP00000435349.2:p.Arg300Trp
ENST00000529957.6:n.872A>T
ENST00000683366.1:c.*546A>T	ENSP00000507283.1:n.*546A>T
ENST00000683887.1:c.862A>T	ENSP00000506886.1:p.Arg288Trp
ENST00000684100.1:n.808A>T
ENST00000684126.1:n.948A>T
ENST00000684688.1:n.1439A>T
ENST00000204679.9:c.814A>T MANE Select	ENSP00000204679.4:p.Arg272Trp
ENST00000204679.8:c.814A>T	ENSP00000204679.4:p.Arg272Trp
ENST00000527076.1:n.2037A>T
ENST00000527168.5:n.981A>T
ENST00000529957.5:n.913A>T
NM_032520.4:c.814A>T	NP_115909.1:p.Arg272Trp
XM_017023782.1:c.862A>T	XP_016879271.1:p.Arg288Trp
XM_017023783.1:c.454A>T	XP_016879272.1:p.Arg152Trp
NM_032520.5:c.814A>T MANE Select	NP_115909.1:p.Arg272Trp