Canonical Allele Identifier: CA394188069

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412464C>A (hg19) ; chr16:g.1362463C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362463C>A , CM000678.2:g.1362463C>A	GRCh38
NC_000016.9:g.1412464C>A , CM000678.1:g.1412464C>A	GRCh37
NC_000016.8:g.1352465C>A	NCBI36
NG_016985.1:g.15565C>A
NG_033129.1:g.57242G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.637C>A
ENST00000529110.2:c.622C>A	ENSP00000435349.2:p.Leu208Met
ENST00000529957.6:n.596C>A
ENST00000683366.1:c.*270C>A	ENSP00000507283.1:n.*270C>A
ENST00000683887.1:c.586C>A	ENSP00000506886.1:p.Leu196Met
ENST00000684100.1:n.532C>A
ENST00000684126.1:n.596C>A
ENST00000684688.1:n.1163C>A
ENST00000204679.9:c.538C>A MANE Select	ENSP00000204679.4:p.Leu180Met
ENST00000204679.8:c.538C>A	ENSP00000204679.4:p.Leu180Met
ENST00000527076.1:n.1685C>A
ENST00000527168.5:n.705C>A
ENST00000529957.5:n.637C>A
NM_032520.4:c.538C>A	NP_115909.1:p.Leu180Met
XM_017023782.1:c.586C>A	XP_016879271.1:p.Leu196Met
XM_017023783.1:c.178C>A	XP_016879272.1:p.Leu60Met
NM_032520.5:c.538C>A MANE Select	NP_115909.1:p.Leu180Met