Canonical Allele Identifier: CA394186944

Gene: GNPTG

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.379C>A
ENST00000529110.2:c.364C>A	ENSP00000435349.2:p.Gln122Lys
ENST00000529957.6:n.338C>A
ENST00000683366.1:c.*12C>A	ENSP00000507283.1:n.*12C>A
ENST00000683887.1:c.328C>A	ENSP00000506886.1:p.Gln110Lys
ENST00000684100.1:n.274C>A
ENST00000684126.1:n.338C>A
ENST00000684688.1:n.905C>A
ENST00000204679.9:c.280C>A MANE Select	ENSP00000204679.4:p.Gln94Lys
ENST00000204679.8:c.280C>A	ENSP00000204679.4:p.Gln94Lys
ENST00000526820.5:c.*182C>A	ENSP00000434413.1:n.*182C>A
ENST00000527076.1:n.1296C>A
ENST00000527168.5:n.316C>A
ENST00000529110.1:c.347C>A
ENST00000529957.5:n.379C>A
NM_032520.4:c.280C>A	NP_115909.1:p.Gln94Lys
XM_017023782.1:c.328C>A	XP_016879271.1:p.Gln110Lys
XM_017023783.1:c.-81C>A	XP_016879272.1:n.-81C>A
NM_032520.5:c.280C>A MANE Select	NP_115909.1:p.Gln94Lys