Canonical Allele Identifier: CA394188693

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412839T>G (hg19) ; chr16:g.1362838T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362838T>G , CM000678.2:g.1362838T>G	GRCh38
NC_000016.9:g.1412839T>G , CM000678.1:g.1412839T>G	GRCh37
NC_000016.8:g.1352840T>G	NCBI36
NG_016985.1:g.15940T>G
NG_033129.1:g.56867A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.854T>G
ENST00000529110.2:c.839T>G	ENSP00000435349.2:p.Leu280Arg
ENST00000529957.6:n.813T>G
ENST00000683366.1:c.*487T>G	ENSP00000507283.1:n.*487T>G
ENST00000683887.1:c.803T>G	ENSP00000506886.1:p.Leu268Arg
ENST00000684100.1:n.749T>G
ENST00000684126.1:n.889T>G
ENST00000684688.1:n.1380T>G
ENST00000204679.9:c.755T>G MANE Select	ENSP00000204679.4:p.Leu252Arg
ENST00000204679.8:c.755T>G	ENSP00000204679.4:p.Leu252Arg
ENST00000527076.1:n.1978T>G
ENST00000527168.5:n.922T>G
ENST00000529957.5:n.854T>G
NM_032520.4:c.755T>G	NP_115909.1:p.Leu252Arg
XM_017023782.1:c.803T>G	XP_016879271.1:p.Leu268Arg
XM_017023783.1:c.395T>G	XP_016879272.1:p.Leu132Arg
NM_032520.5:c.755T>G MANE Select	NP_115909.1:p.Leu252Arg