Canonical Allele Identifier: CA394188678

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412833A>T (hg19) ; chr16:g.1362832A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362832A>T , CM000678.2:g.1362832A>T	GRCh38
NC_000016.9:g.1412833A>T , CM000678.1:g.1412833A>T	GRCh37
NC_000016.8:g.1352834A>T	NCBI36
NG_016985.1:g.15934A>T
NG_033129.1:g.56873T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.848A>T
ENST00000529110.2:c.833A>T	ENSP00000435349.2:p.Lys278Ile
ENST00000529957.6:n.807A>T
ENST00000683366.1:c.*481A>T	ENSP00000507283.1:n.*481A>T
ENST00000683887.1:c.797A>T	ENSP00000506886.1:p.Lys266Ile
ENST00000684100.1:n.743A>T
ENST00000684126.1:n.883A>T
ENST00000684688.1:n.1374A>T
ENST00000204679.9:c.749A>T MANE Select	ENSP00000204679.4:p.Lys250Ile
ENST00000204679.8:c.749A>T	ENSP00000204679.4:p.Lys250Ile
ENST00000527076.1:n.1972A>T
ENST00000527168.5:n.916A>T
ENST00000529957.5:n.848A>T
NM_032520.4:c.749A>T	NP_115909.1:p.Lys250Ile
XM_017023782.1:c.797A>T	XP_016879271.1:p.Lys266Ile
XM_017023783.1:c.389A>T	XP_016879272.1:p.Lys130Ile
NM_032520.5:c.749A>T MANE Select	NP_115909.1:p.Lys250Ile