Canonical Allele Identifier: CA394188395

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412620G>C (hg19) ; chr16:g.1362619G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362619G>C , CM000678.2:g.1362619G>C	GRCh38
NC_000016.9:g.1412620G>C , CM000678.1:g.1412620G>C	GRCh37
NC_000016.8:g.1352621G>C	NCBI36
NG_016985.1:g.15721G>C
NG_033129.1:g.57086C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.717G>C
ENST00000529110.2:c.702G>C	ENSP00000435349.2:p.Glu234Asp
ENST00000529957.6:n.676G>C
ENST00000683366.1:c.*350G>C	ENSP00000507283.1:n.*350G>C
ENST00000683887.1:c.666G>C	ENSP00000506886.1:p.Glu222Asp
ENST00000684100.1:n.612G>C
ENST00000684126.1:n.752G>C
ENST00000684688.1:n.1243G>C
ENST00000204679.9:c.618G>C MANE Select	ENSP00000204679.4:p.Glu206Asp
ENST00000204679.8:c.618G>C	ENSP00000204679.4:p.Glu206Asp
ENST00000527076.1:n.1841G>C
ENST00000527168.5:n.785G>C
ENST00000529957.5:n.717G>C
NM_032520.4:c.618G>C	NP_115909.1:p.Glu206Asp
XM_017023782.1:c.666G>C	XP_016879271.1:p.Glu222Asp
XM_017023783.1:c.258G>C	XP_016879272.1:p.Glu86Asp
NM_032520.5:c.618G>C MANE Select	NP_115909.1:p.Glu206Asp