Canonical Allele Identifier: CA394188418

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412631G>T (hg19) ; chr16:g.1362630G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362630G>T , CM000678.2:g.1362630G>T	GRCh38
NC_000016.9:g.1412631G>T , CM000678.1:g.1412631G>T	GRCh37
NC_000016.8:g.1352632G>T	NCBI36
NG_016985.1:g.15732G>T
NG_033129.1:g.57075C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.728G>T
ENST00000529110.2:c.713G>T	ENSP00000435349.2:p.Arg238Met
ENST00000529957.6:n.687G>T
ENST00000683366.1:c.*361G>T	ENSP00000507283.1:n.*361G>T
ENST00000683887.1:c.677G>T	ENSP00000506886.1:p.Arg226Met
ENST00000684100.1:n.623G>T
ENST00000684126.1:n.763G>T
ENST00000684688.1:n.1254G>T
ENST00000204679.9:c.629G>T MANE Select	ENSP00000204679.4:p.Arg210Met
ENST00000204679.8:c.629G>T	ENSP00000204679.4:p.Arg210Met
ENST00000527076.1:n.1852G>T
ENST00000527168.5:n.796G>T
ENST00000529957.5:n.728G>T
NM_032520.4:c.629G>T	NP_115909.1:p.Arg210Met
XM_017023782.1:c.677G>T	XP_016879271.1:p.Arg226Met
XM_017023783.1:c.269G>T	XP_016879272.1:p.Arg90Met
NM_032520.5:c.629G>T MANE Select	NP_115909.1:p.Arg210Met