Canonical Allele Identifier: CA394188755

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412871C>A (hg19) ; chr16:g.1362870C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362870C>A , CM000678.2:g.1362870C>A	GRCh38
NC_000016.9:g.1412871C>A , CM000678.1:g.1412871C>A	GRCh37
NC_000016.8:g.1352872C>A	NCBI36
NG_016985.1:g.15972C>A
NG_033129.1:g.56835G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.886C>A
ENST00000529110.2:c.871C>A	ENSP00000435349.2:p.Leu291Ile
ENST00000529957.6:n.845C>A
ENST00000683366.1:c.*519C>A	ENSP00000507283.1:n.*519C>A
ENST00000683887.1:c.835C>A	ENSP00000506886.1:p.Leu279Ile
ENST00000684100.1:n.781C>A
ENST00000684126.1:n.921C>A
ENST00000684688.1:n.1412C>A
ENST00000204679.9:c.787C>A MANE Select	ENSP00000204679.4:p.Leu263Ile
ENST00000204679.8:c.787C>A	ENSP00000204679.4:p.Leu263Ile
ENST00000527076.1:n.2010C>A
ENST00000527168.5:n.954C>A
ENST00000529957.5:n.886C>A
NM_032520.4:c.787C>A	NP_115909.1:p.Leu263Ile
XM_017023782.1:c.835C>A	XP_016879271.1:p.Leu279Ile
XM_017023783.1:c.427C>A	XP_016879272.1:p.Leu143Ile
NM_032520.5:c.787C>A MANE Select	NP_115909.1:p.Leu263Ile