Canonical Allele Identifier: CA394188453

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412649C>G (hg19) ; chr16:g.1362648C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362648C>G , CM000678.2:g.1362648C>G	GRCh38
NC_000016.9:g.1412649C>G , CM000678.1:g.1412649C>G	GRCh37
NC_000016.8:g.1352650C>G	NCBI36
NG_016985.1:g.15750C>G
NG_033129.1:g.57057G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.746C>G
ENST00000529110.2:c.731C>G	ENSP00000435349.2:p.Ala244Gly
ENST00000529957.6:n.705C>G
ENST00000683366.1:c.*379C>G	ENSP00000507283.1:n.*379C>G
ENST00000683887.1:c.695C>G	ENSP00000506886.1:p.Ala232Gly
ENST00000684100.1:n.641C>G
ENST00000684126.1:n.781C>G
ENST00000684688.1:n.1272C>G
ENST00000204679.9:c.647C>G MANE Select	ENSP00000204679.4:p.Ala216Gly
ENST00000204679.8:c.647C>G	ENSP00000204679.4:p.Ala216Gly
ENST00000527076.1:n.1870C>G
ENST00000527168.5:n.814C>G
ENST00000529957.5:n.746C>G
NM_032520.4:c.647C>G	NP_115909.1:p.Ala216Gly
XM_017023782.1:c.695C>G	XP_016879271.1:p.Ala232Gly
XM_017023783.1:c.287C>G	XP_016879272.1:p.Ala96Gly
NM_032520.5:c.647C>G MANE Select	NP_115909.1:p.Ala216Gly