Canonical Allele Identifier: CA394188716

Gene: GNPTG

Linked Data

• dbSNP Id: rs1440234416
• gnomAD v2: 16-1412851-T-A
• gnomAD v4: 16-1362850-T-A
• MyVariant Identifiers: chr16:g.1412851T>A (hg19) ; chr16:g.1362850T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362850T>A , CM000678.2:g.1362850T>A	GRCh38
NC_000016.9:g.1412851T>A , CM000678.1:g.1412851T>A	GRCh37
NC_000016.8:g.1352852T>A	NCBI36
NG_016985.1:g.15952T>A
NG_033129.1:g.56855A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.866T>A
ENST00000529110.2:c.851T>A	ENSP00000435349.2:p.Ile284Asn
ENST00000529957.6:n.825T>A
ENST00000683366.1:c.*499T>A	ENSP00000507283.1:n.*499T>A
ENST00000683887.1:c.815T>A	ENSP00000506886.1:p.Ile272Asn
ENST00000684100.1:n.761T>A
ENST00000684126.1:n.901T>A
ENST00000684688.1:n.1392T>A
ENST00000204679.9:c.767T>A MANE Select	ENSP00000204679.4:p.Ile256Asn
ENST00000204679.8:c.767T>A	ENSP00000204679.4:p.Ile256Asn
ENST00000527076.1:n.1990T>A
ENST00000527168.5:n.934T>A
ENST00000529957.5:n.866T>A
NM_032520.4:c.767T>A	NP_115909.1:p.Ile256Asn
XM_017023782.1:c.815T>A	XP_016879271.1:p.Ile272Asn
XM_017023783.1:c.407T>A	XP_016879272.1:p.Ile136Asn
NM_032520.5:c.767T>A MANE Select	NP_115909.1:p.Ile256Asn