Canonical Allele Identifier: CA394188645

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412741A>G (hg19) ; chr16:g.1362740A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362740A>G , CM000678.2:g.1362740A>G	GRCh38
NC_000016.9:g.1412741A>G , CM000678.1:g.1412741A>G	GRCh37
NC_000016.8:g.1352742A>G	NCBI36
NG_016985.1:g.15842A>G
NG_033129.1:g.56965T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.838A>G
ENST00000529110.2:c.823A>G	ENSP00000435349.2:p.Lys275Glu
ENST00000529957.6:n.797A>G
ENST00000683366.1:c.*471A>G	ENSP00000507283.1:n.*471A>G
ENST00000683887.1:c.787A>G	ENSP00000506886.1:p.Lys263Glu
ENST00000684100.1:n.733A>G
ENST00000684126.1:n.873A>G
ENST00000684688.1:n.1364A>G
ENST00000204679.9:c.739A>G MANE Select	ENSP00000204679.4:p.Lys247Glu
ENST00000204679.8:c.739A>G	ENSP00000204679.4:p.Lys247Glu
ENST00000527076.1:n.1962A>G
ENST00000527168.5:n.906A>G
ENST00000529957.5:n.838A>G
NM_032520.4:c.739A>G	NP_115909.1:p.Lys247Glu
XM_017023782.1:c.787A>G	XP_016879271.1:p.Lys263Glu
XM_017023783.1:c.379A>G	XP_016879272.1:p.Lys127Glu
NM_032520.5:c.739A>G MANE Select	NP_115909.1:p.Lys247Glu