Canonical Allele Identifier: CA394188736

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412860T>A (hg19) ; chr16:g.1362859T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362859T>A , CM000678.2:g.1362859T>A	GRCh38
NC_000016.9:g.1412860T>A , CM000678.1:g.1412860T>A	GRCh37
NC_000016.8:g.1352861T>A	NCBI36
NG_016985.1:g.15961T>A
NG_033129.1:g.56846A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.875T>A
ENST00000529110.2:c.860T>A	ENSP00000435349.2:p.Leu287Gln
ENST00000529957.6:n.834T>A
ENST00000683366.1:c.*508T>A	ENSP00000507283.1:n.*508T>A
ENST00000683887.1:c.824T>A	ENSP00000506886.1:p.Leu275Gln
ENST00000684100.1:n.770T>A
ENST00000684126.1:n.910T>A
ENST00000684688.1:n.1401T>A
ENST00000204679.9:c.776T>A MANE Select	ENSP00000204679.4:p.Leu259Gln
ENST00000204679.8:c.776T>A	ENSP00000204679.4:p.Leu259Gln
ENST00000527076.1:n.1999T>A
ENST00000527168.5:n.943T>A
ENST00000529957.5:n.875T>A
NM_032520.4:c.776T>A	NP_115909.1:p.Leu259Gln
XM_017023782.1:c.824T>A	XP_016879271.1:p.Leu275Gln
XM_017023783.1:c.416T>A	XP_016879272.1:p.Leu139Gln
NM_032520.5:c.776T>A MANE Select	NP_115909.1:p.Leu259Gln