Canonical Allele Identifier: CA394187792

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362255-C-A
• MyVariant Identifiers: chr16:g.1412256C>A (hg19) ; chr16:g.1362255C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362255C>A , CM000678.2:g.1362255C>A	GRCh38
NC_000016.9:g.1412256C>A , CM000678.1:g.1412256C>A	GRCh37
NC_000016.8:g.1352257C>A	NCBI36
NG_016985.1:g.15357C>A
NG_033129.1:g.57450G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.560C>A
ENST00000529110.2:c.545C>A	ENSP00000435349.2:p.Pro182Gln
ENST00000529957.6:n.519C>A
ENST00000683366.1:c.*193C>A	ENSP00000507283.1:n.*193C>A
ENST00000683887.1:c.509C>A	ENSP00000506886.1:p.Pro170Gln
ENST00000684100.1:n.455C>A
ENST00000684126.1:n.519C>A
ENST00000684688.1:n.1086C>A
ENST00000204679.9:c.461C>A MANE Select	ENSP00000204679.4:p.Pro154Gln
ENST00000204679.8:c.461C>A	ENSP00000204679.4:p.Pro154Gln
ENST00000527076.1:n.1477C>A
ENST00000527168.5:n.497C>A
ENST00000529110.1:c.528C>A
ENST00000529957.5:n.560C>A
NM_032520.4:c.461C>A	NP_115909.1:p.Pro154Gln
XM_017023782.1:c.509C>A	XP_016879271.1:p.Pro170Gln
XM_017023783.1:c.101C>A	XP_016879272.1:p.Pro34Gln
NM_032520.5:c.461C>A MANE Select	NP_115909.1:p.Pro154Gln