Canonical Allele Identifier: CA394188349

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034919775
• gnomAD v3: 16-1362525-C-G
• gnomAD v4: 16-1362525-C-G
• MyVariant Identifiers: chr16:g.1412526C>G (hg19) ; chr16:g.1362525C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362525C>G , CM000678.2:g.1362525C>G	GRCh38
NC_000016.9:g.1412526C>G , CM000678.1:g.1412526C>G	GRCh37
NC_000016.8:g.1352527C>G	NCBI36
NG_016985.1:g.15627C>G
NG_033129.1:g.57180G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.699C>G
ENST00000529110.2:c.684C>G	ENSP00000435349.2:p.Ile228Met
ENST00000529957.6:n.658C>G
ENST00000683366.1:c.*332C>G	ENSP00000507283.1:n.*332C>G
ENST00000683887.1:c.648C>G	ENSP00000506886.1:p.Ile216Met
ENST00000684100.1:n.594C>G
ENST00000684126.1:n.658C>G
ENST00000684688.1:n.1225C>G
ENST00000204679.9:c.600C>G MANE Select	ENSP00000204679.4:p.Ile200Met
ENST00000204679.8:c.600C>G	ENSP00000204679.4:p.Ile200Met
ENST00000527076.1:n.1747C>G
ENST00000527168.5:n.767C>G
ENST00000529957.5:n.699C>G
NM_032520.4:c.600C>G	NP_115909.1:p.Ile200Met
XM_017023782.1:c.648C>G	XP_016879271.1:p.Ile216Met
XM_017023783.1:c.240C>G	XP_016879272.1:p.Ile80Met
NM_032520.5:c.600C>G MANE Select	NP_115909.1:p.Ile200Met