Canonical Allele Identifier: CA394187894

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034907495
• MyVariant Identifiers: chr16:g.1412283T>C (hg19) ; chr16:g.1362282T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362282T>C , CM000678.2:g.1362282T>C	GRCh38
NC_000016.9:g.1412283T>C , CM000678.1:g.1412283T>C	GRCh37
NC_000016.8:g.1352284T>C	NCBI36
NG_016985.1:g.15384T>C
NG_033129.1:g.57423A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.587T>C
ENST00000529110.2:c.572T>C	ENSP00000435349.2:p.Phe191Ser
ENST00000529957.6:n.546T>C
ENST00000683366.1:c.*220T>C	ENSP00000507283.1:n.*220T>C
ENST00000683887.1:c.536T>C	ENSP00000506886.1:p.Phe179Ser
ENST00000684100.1:n.482T>C
ENST00000684126.1:n.546T>C
ENST00000684688.1:n.1113T>C
ENST00000204679.9:c.488T>C MANE Select	ENSP00000204679.4:p.Phe163Ser
ENST00000204679.8:c.488T>C	ENSP00000204679.4:p.Phe163Ser
ENST00000527076.1:n.1504T>C
ENST00000527168.5:n.524T>C
ENST00000529957.5:n.587T>C
NM_032520.4:c.488T>C	NP_115909.1:p.Phe163Ser
XM_017023782.1:c.536T>C	XP_016879271.1:p.Phe179Ser
XM_017023783.1:c.128T>C	XP_016879272.1:p.Phe43Ser
NM_032520.5:c.488T>C MANE Select	NP_115909.1:p.Phe163Ser