Canonical Allele Identifier: CA394186946

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361918-C-G
• MyVariant Identifiers: chr16:g.1411919C>G (hg19) ; chr16:g.1361918C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361918C>G , CM000678.2:g.1361918C>G	GRCh38
NC_000016.9:g.1411919C>G , CM000678.1:g.1411919C>G	GRCh37
NC_000016.8:g.1351920C>G	NCBI36
NG_016985.1:g.15020C>G
NG_033129.1:g.57787G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.379C>G
ENST00000529110.2:c.364C>G	ENSP00000435349.2:p.Gln122Glu
ENST00000529957.6:n.338C>G
ENST00000683366.1:c.*12C>G	ENSP00000507283.1:n.*12C>G
ENST00000683887.1:c.328C>G	ENSP00000506886.1:p.Gln110Glu
ENST00000684100.1:n.274C>G
ENST00000684126.1:n.338C>G
ENST00000684688.1:n.905C>G
ENST00000204679.9:c.280C>G MANE Select	ENSP00000204679.4:p.Gln94Glu
ENST00000204679.8:c.280C>G	ENSP00000204679.4:p.Gln94Glu
ENST00000526820.5:c.*182C>G	ENSP00000434413.1:n.*182C>G
ENST00000527076.1:n.1296C>G
ENST00000527168.5:n.316C>G
ENST00000529110.1:c.347C>G
ENST00000529957.5:n.379C>G
NM_032520.4:c.280C>G	NP_115909.1:p.Gln94Glu
XM_017023782.1:c.328C>G	XP_016879271.1:p.Gln110Glu
XM_017023783.1:c.-81C>G	XP_016879272.1:n.-81C>G
NM_032520.5:c.280C>G MANE Select	NP_115909.1:p.Gln94Glu