Canonical Allele Identifier: CA394187924

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412302C>A (hg19) ; chr16:g.1362301C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362301C>A , CM000678.2:g.1362301C>A	GRCh38
NC_000016.9:g.1412302C>A , CM000678.1:g.1412302C>A	GRCh37
NC_000016.8:g.1352303C>A	NCBI36
NG_016985.1:g.15403C>A
NG_033129.1:g.57404G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.606C>A
ENST00000529110.2:c.591C>A	ENSP00000435349.2:p.Cys197Ter
ENST00000529957.6:n.565C>A
ENST00000683366.1:c.*239C>A	ENSP00000507283.1:n.*239C>A
ENST00000683887.1:c.555C>A	ENSP00000506886.1:p.Cys185Ter
ENST00000684100.1:n.501C>A
ENST00000684126.1:n.565C>A
ENST00000684688.1:n.1132C>A
ENST00000204679.9:c.507C>A MANE Select	ENSP00000204679.4:p.Cys169Ter
ENST00000204679.8:c.507C>A	ENSP00000204679.4:p.Cys169Ter
ENST00000527076.1:n.1523C>A
ENST00000527168.5:n.543C>A
ENST00000529957.5:n.606C>A
NM_032520.4:c.507C>A	NP_115909.1:p.Cys169Ter
XM_017023782.1:c.555C>A	XP_016879271.1:p.Cys185Ter
XM_017023783.1:c.147C>A	XP_016879272.1:p.Cys49Ter
NM_032520.5:c.507C>A MANE Select	NP_115909.1:p.Cys169Ter