Canonical Allele Identifier: CA394188662

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412826G>A (hg19) ; chr16:g.1362825G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362825G>A , CM000678.2:g.1362825G>A	GRCh38
NC_000016.9:g.1412826G>A , CM000678.1:g.1412826G>A	GRCh37
NC_000016.8:g.1352827G>A	NCBI36
NG_016985.1:g.15927G>A
NG_033129.1:g.56880C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.841G>A
ENST00000529110.2:c.826G>A	ENSP00000435349.2:p.Ala276Thr
ENST00000529957.6:n.800G>A
ENST00000683366.1:c.*474G>A	ENSP00000507283.1:n.*474G>A
ENST00000683887.1:c.790G>A	ENSP00000506886.1:p.Ala264Thr
ENST00000684100.1:n.736G>A
ENST00000684126.1:n.876G>A
ENST00000684688.1:n.1367G>A
ENST00000204679.9:c.742G>A MANE Select	ENSP00000204679.4:p.Ala248Thr
ENST00000204679.8:c.742G>A	ENSP00000204679.4:p.Ala248Thr
ENST00000527076.1:n.1965G>A
ENST00000527168.5:n.909G>A
ENST00000529957.5:n.841G>A
NM_032520.4:c.742G>A	NP_115909.1:p.Ala248Thr
XM_017023782.1:c.790G>A	XP_016879271.1:p.Ala264Thr
XM_017023783.1:c.382G>A	XP_016879272.1:p.Ala128Thr
NM_032520.5:c.742G>A MANE Select	NP_115909.1:p.Ala248Thr