Canonical Allele Identifier: CA394188757

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412872T>G (hg19) ; chr16:g.1362871T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362871T>G , CM000678.2:g.1362871T>G	GRCh38
NC_000016.9:g.1412872T>G , CM000678.1:g.1412872T>G	GRCh37
NC_000016.8:g.1352873T>G	NCBI36
NG_016985.1:g.15973T>G
NG_033129.1:g.56834A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.887T>G
ENST00000529110.2:c.872T>G	ENSP00000435349.2:p.Leu291Arg
ENST00000529957.6:n.846T>G
ENST00000683366.1:c.*520T>G	ENSP00000507283.1:n.*520T>G
ENST00000683887.1:c.836T>G	ENSP00000506886.1:p.Leu279Arg
ENST00000684100.1:n.782T>G
ENST00000684126.1:n.922T>G
ENST00000684688.1:n.1413T>G
ENST00000204679.9:c.788T>G MANE Select	ENSP00000204679.4:p.Leu263Arg
ENST00000204679.8:c.788T>G	ENSP00000204679.4:p.Leu263Arg
ENST00000527076.1:n.2011T>G
ENST00000527168.5:n.955T>G
ENST00000529957.5:n.887T>G
NM_032520.4:c.788T>G	NP_115909.1:p.Leu263Arg
XM_017023782.1:c.836T>G	XP_016879271.1:p.Leu279Arg
XM_017023783.1:c.428T>G	XP_016879272.1:p.Leu143Arg
NM_032520.5:c.788T>G MANE Select	NP_115909.1:p.Leu263Arg