Canonical Allele Identifier: CA394188352

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362527-C-G
• MyVariant Identifiers: chr16:g.1412528C>G (hg19) ; chr16:g.1362527C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362527C>G , CM000678.2:g.1362527C>G	GRCh38
NC_000016.9:g.1412528C>G , CM000678.1:g.1412528C>G	GRCh37
NC_000016.8:g.1352529C>G	NCBI36
NG_016985.1:g.15629C>G
NG_033129.1:g.57178G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.701C>G
ENST00000529110.2:c.686C>G	ENSP00000435349.2:p.Thr229Ser
ENST00000529957.6:n.660C>G
ENST00000683366.1:c.*334C>G	ENSP00000507283.1:n.*334C>G
ENST00000683887.1:c.650C>G	ENSP00000506886.1:p.Thr217Ser
ENST00000684100.1:n.596C>G
ENST00000684126.1:n.660C>G
ENST00000684688.1:n.1227C>G
ENST00000204679.9:c.602C>G MANE Select	ENSP00000204679.4:p.Thr201Ser
ENST00000204679.8:c.602C>G	ENSP00000204679.4:p.Thr201Ser
ENST00000527076.1:n.1749C>G
ENST00000527168.5:n.769C>G
ENST00000529957.5:n.701C>G
NM_032520.4:c.602C>G	NP_115909.1:p.Thr201Ser
XM_017023782.1:c.650C>G	XP_016879271.1:p.Thr217Ser
XM_017023783.1:c.242C>G	XP_016879272.1:p.Thr81Ser
NM_032520.5:c.602C>G MANE Select	NP_115909.1:p.Thr201Ser