Canonical Allele Identifier: CA394188344

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412524A>G (hg19) ; chr16:g.1362523A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362523A>G , CM000678.2:g.1362523A>G	GRCh38
NC_000016.9:g.1412524A>G , CM000678.1:g.1412524A>G	GRCh37
NC_000016.8:g.1352525A>G	NCBI36
NG_016985.1:g.15625A>G
NG_033129.1:g.57182T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.697A>G
ENST00000529110.2:c.682A>G	ENSP00000435349.2:p.Ile228Val
ENST00000529957.6:n.656A>G
ENST00000683366.1:c.*330A>G	ENSP00000507283.1:n.*330A>G
ENST00000683887.1:c.646A>G	ENSP00000506886.1:p.Ile216Val
ENST00000684100.1:n.592A>G
ENST00000684126.1:n.656A>G
ENST00000684688.1:n.1223A>G
ENST00000204679.9:c.598A>G MANE Select	ENSP00000204679.4:p.Ile200Val
ENST00000204679.8:c.598A>G	ENSP00000204679.4:p.Ile200Val
ENST00000527076.1:n.1745A>G
ENST00000527168.5:n.765A>G
ENST00000529957.5:n.697A>G
NM_032520.4:c.598A>G	NP_115909.1:p.Ile200Val
XM_017023782.1:c.646A>G	XP_016879271.1:p.Ile216Val
XM_017023783.1:c.238A>G	XP_016879272.1:p.Ile80Val
NM_032520.5:c.598A>G MANE Select	NP_115909.1:p.Ile200Val