Canonical Allele Identifier: CA394188416

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412630A>T (hg19) ; chr16:g.1362629A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362629A>T , CM000678.2:g.1362629A>T	GRCh38
NC_000016.9:g.1412630A>T , CM000678.1:g.1412630A>T	GRCh37
NC_000016.8:g.1352631A>T	NCBI36
NG_016985.1:g.15731A>T
NG_033129.1:g.57076T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.727A>T
ENST00000529110.2:c.712A>T	ENSP00000435349.2:p.Arg238Trp
ENST00000529957.6:n.686A>T
ENST00000683366.1:c.*360A>T	ENSP00000507283.1:n.*360A>T
ENST00000683887.1:c.676A>T	ENSP00000506886.1:p.Arg226Trp
ENST00000684100.1:n.622A>T
ENST00000684126.1:n.762A>T
ENST00000684688.1:n.1253A>T
ENST00000204679.9:c.628A>T MANE Select	ENSP00000204679.4:p.Arg210Trp
ENST00000204679.8:c.628A>T	ENSP00000204679.4:p.Arg210Trp
ENST00000527076.1:n.1851A>T
ENST00000527168.5:n.795A>T
ENST00000529957.5:n.727A>T
NM_032520.4:c.628A>T	NP_115909.1:p.Arg210Trp
XM_017023782.1:c.676A>T	XP_016879271.1:p.Arg226Trp
XM_017023783.1:c.268A>T	XP_016879272.1:p.Arg90Trp
NM_032520.5:c.628A>T MANE Select	NP_115909.1:p.Arg210Trp