Canonical Allele Identifier: CA394187280

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362084-T-G
• MyVariant Identifiers: chr16:g.1412085T>G (hg19) ; chr16:g.1362084T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362084T>G , CM000678.2:g.1362084T>G	GRCh38
NC_000016.9:g.1412085T>G , CM000678.1:g.1412085T>G	GRCh37
NC_000016.8:g.1352086T>G	NCBI36
NG_016985.1:g.15186T>G
NG_033129.1:g.57621A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.463T>G
ENST00000529110.2:c.448T>G	ENSP00000435349.2:p.Trp150Gly
ENST00000529957.6:n.422T>G
ENST00000683366.1:c.*96T>G	ENSP00000507283.1:n.*96T>G
ENST00000683887.1:c.412T>G	ENSP00000506886.1:p.Trp138Gly
ENST00000684100.1:n.358T>G
ENST00000684126.1:n.422T>G
ENST00000684688.1:n.989T>G
ENST00000204679.9:c.364T>G MANE Select	ENSP00000204679.4:p.Trp122Gly
ENST00000204679.8:c.364T>G	ENSP00000204679.4:p.Trp122Gly
ENST00000526820.5:c.*266T>G	ENSP00000434413.1:n.*266T>G
ENST00000527076.1:n.1380T>G
ENST00000527168.5:n.400T>G
ENST00000529110.1:c.431T>G
ENST00000529957.5:n.463T>G
NM_032520.4:c.364T>G	NP_115909.1:p.Trp122Gly
XM_017023782.1:c.412T>G	XP_016879271.1:p.Trp138Gly
XM_017023783.1:c.4T>G	XP_016879272.1:p.Trp2Gly
NM_032520.5:c.364T>G MANE Select	NP_115909.1:p.Trp122Gly