Canonical Allele Identifier: CA493026737

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412888C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362887C>T , CM000678.2:g.1362887C>T	GRCh38
NC_000016.9:g.1412888C>T , CM000678.1:g.1412888C>T	GRCh37
NC_000016.8:g.1352889C>T	NCBI36
NG_016985.1:g.15989C>T
NG_033129.1:g.56818G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.903C>T
ENST00000529110.2:c.888C>T	ENSP00000435349.2:p.Ile296=
ENST00000529957.6:n.862C>T
ENST00000683366.1:c.*536C>T	ENSP00000507283.1:n.*536C>T
ENST00000683887.1:c.852C>T	ENSP00000506886.1:p.Ile284=
ENST00000684100.1:n.798C>T
ENST00000684126.1:n.938C>T
ENST00000684688.1:n.1429C>T
ENST00000204679.9:c.804C>T MANE Select	ENSP00000204679.4:p.Ile268=
ENST00000204679.8:c.804C>T	ENSP00000204679.4:p.Ile268=
ENST00000527076.1:n.2027C>T
ENST00000527168.5:n.971C>T
ENST00000529957.5:n.903C>T
NM_032520.4:c.804C>T	NP_115909.1:p.Ile268=
XM_017023782.1:c.852C>T	XP_016879271.1:p.Ile284=
XM_017023783.1:c.444C>T	XP_016879272.1:p.Ile148=
NM_032520.5:c.804C>T MANE Select	NP_115909.1:p.Ile268=