Canonical Allele Identifier: CA493026548

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1659748
• ClinVar RCV Id: RCV002180963
• dbSNP Id: rs752525561
• gnomAD v4: 16-1362289-C-G
• MyVariant Identifiers: chr16:g.1412290C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362289C>G , CM000678.2:g.1362289C>G	GRCh38
NC_000016.9:g.1412290C>G , CM000678.1:g.1412290C>G	GRCh37
NC_000016.8:g.1352291C>G	NCBI36
NG_016985.1:g.15391C>G
NG_033129.1:g.57416G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.594C>G
ENST00000529110.2:c.579C>G	ENSP00000435349.2:p.Thr193=
ENST00000529957.6:n.553C>G
ENST00000683366.1:c.*227C>G	ENSP00000507283.1:n.*227C>G
ENST00000683887.1:c.543C>G	ENSP00000506886.1:p.Thr181=
ENST00000684100.1:n.489C>G
ENST00000684126.1:n.553C>G
ENST00000684688.1:n.1120C>G
ENST00000204679.9:c.495C>G MANE Select	ENSP00000204679.4:p.Thr165=
ENST00000204679.8:c.495C>G	ENSP00000204679.4:p.Thr165=
ENST00000527076.1:n.1511C>G
ENST00000527168.5:n.531C>G
ENST00000529957.5:n.594C>G
NM_032520.4:c.495C>G	NP_115909.1:p.Thr165=
XM_017023782.1:c.543C>G	XP_016879271.1:p.Thr181=
XM_017023783.1:c.135C>G	XP_016879272.1:p.Thr45=
NM_032520.5:c.495C>G MANE Select	NP_115909.1:p.Thr165=