Canonical Allele Identifier: CA394187354

Gene: GNPTG

Linked Data

• dbSNP Id: rs765865746
• gnomAD v2: 16-1412119-G-T
• gnomAD v4: 16-1362118-G-T
• MyVariant Identifiers: chr16:g.1412119G>T (hg19) ; chr16:g.1362118G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362118G>T , CM000678.2:g.1362118G>T	GRCh38
NC_000016.9:g.1412119G>T , CM000678.1:g.1412119G>T	GRCh37
NC_000016.8:g.1352120G>T	NCBI36
NG_016985.1:g.15220G>T
NG_033129.1:g.57587C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.497G>T
ENST00000529110.2:c.482G>T	ENSP00000435349.2:p.Ser161Ile
ENST00000529957.6:n.456G>T
ENST00000683366.1:c.*130G>T	ENSP00000507283.1:n.*130G>T
ENST00000683887.1:c.446G>T	ENSP00000506886.1:p.Ser149Ile
ENST00000684100.1:n.392G>T
ENST00000684126.1:n.456G>T
ENST00000684688.1:n.1023G>T
ENST00000204679.9:c.398G>T MANE Select	ENSP00000204679.4:p.Ser133Ile
ENST00000204679.8:c.398G>T	ENSP00000204679.4:p.Ser133Ile
ENST00000526820.5:c.*300G>T	ENSP00000434413.1:n.*300G>T
ENST00000527076.1:n.1414G>T
ENST00000527168.5:n.434G>T
ENST00000529110.1:c.465G>T
ENST00000529957.5:n.497G>T
NM_032520.4:c.398G>T	NP_115909.1:p.Ser133Ile
XM_017023782.1:c.446G>T	XP_016879271.1:p.Ser149Ile
XM_017023783.1:c.38G>T	XP_016879272.1:p.Ser13Ile
NM_032520.5:c.398G>T MANE Select	NP_115909.1:p.Ser133Ile