Canonical Allele Identifier: CA394188738

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412862A>G (hg19) ; chr16:g.1362861A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362861A>G , CM000678.2:g.1362861A>G	GRCh38
NC_000016.9:g.1412862A>G , CM000678.1:g.1412862A>G	GRCh37
NC_000016.8:g.1352863A>G	NCBI36
NG_016985.1:g.15963A>G
NG_033129.1:g.56844T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.877A>G
ENST00000529110.2:c.862A>G	ENSP00000435349.2:p.Lys288Glu
ENST00000529957.6:n.836A>G
ENST00000683366.1:c.*510A>G	ENSP00000507283.1:n.*510A>G
ENST00000683887.1:c.826A>G	ENSP00000506886.1:p.Lys276Glu
ENST00000684100.1:n.772A>G
ENST00000684126.1:n.912A>G
ENST00000684688.1:n.1403A>G
ENST00000204679.9:c.778A>G MANE Select	ENSP00000204679.4:p.Lys260Glu
ENST00000204679.8:c.778A>G	ENSP00000204679.4:p.Lys260Glu
ENST00000527076.1:n.2001A>G
ENST00000527168.5:n.945A>G
ENST00000529957.5:n.877A>G
NM_032520.4:c.778A>G	NP_115909.1:p.Lys260Glu
XM_017023782.1:c.826A>G	XP_016879271.1:p.Lys276Glu
XM_017023783.1:c.418A>G	XP_016879272.1:p.Lys140Glu
NM_032520.5:c.778A>G MANE Select	NP_115909.1:p.Lys260Glu