Canonical Allele Identifier: CA394187214

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412054G>C (hg19) ; chr16:g.1362053G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362053G>C , CM000678.2:g.1362053G>C	GRCh38
NC_000016.9:g.1412054G>C , CM000678.1:g.1412054G>C	GRCh37
NC_000016.8:g.1352055G>C	NCBI36
NG_016985.1:g.15155G>C
NG_033129.1:g.57652C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.432G>C
ENST00000529110.2:c.417G>C	ENSP00000435349.2:p.Trp139Cys
ENST00000529957.6:n.391G>C
ENST00000683366.1:c.*65G>C	ENSP00000507283.1:n.*65G>C
ENST00000683887.1:c.381G>C	ENSP00000506886.1:p.Trp127Cys
ENST00000684100.1:n.327G>C
ENST00000684126.1:n.391G>C
ENST00000684688.1:n.958G>C
ENST00000204679.9:c.333G>C MANE Select	ENSP00000204679.4:p.Trp111Cys
ENST00000204679.8:c.333G>C	ENSP00000204679.4:p.Trp111Cys
ENST00000526820.5:c.*235G>C	ENSP00000434413.1:n.*235G>C
ENST00000527076.1:n.1349G>C
ENST00000527168.5:n.369G>C
ENST00000529110.1:c.400G>C
ENST00000529957.5:n.432G>C
NM_032520.4:c.333G>C	NP_115909.1:p.Trp111Cys
XM_017023782.1:c.381G>C	XP_016879271.1:p.Trp127Cys
XM_017023783.1:c.-28G>C	XP_016879272.1:n.-28G>C
NM_032520.5:c.333G>C MANE Select	NP_115909.1:p.Trp111Cys