Canonical Allele Identifier: CA493026530

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362065-C-T
• MyVariant Identifiers: chr16:g.1412066C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362065C>T , CM000678.2:g.1362065C>T	GRCh38
NC_000016.9:g.1412066C>T , CM000678.1:g.1412066C>T	GRCh37
NC_000016.8:g.1352067C>T	NCBI36
NG_016985.1:g.15167C>T
NG_033129.1:g.57640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.444C>T
ENST00000529110.2:c.429C>T	ENSP00000435349.2:p.Asn143=
ENST00000529957.6:n.403C>T
ENST00000683366.1:c.*77C>T	ENSP00000507283.1:n.*77C>T
ENST00000683887.1:c.393C>T	ENSP00000506886.1:p.Asn131=
ENST00000684100.1:n.339C>T
ENST00000684126.1:n.403C>T
ENST00000684688.1:n.970C>T
ENST00000204679.9:c.345C>T MANE Select	ENSP00000204679.4:p.Asn115=
ENST00000204679.8:c.345C>T	ENSP00000204679.4:p.Asn115=
ENST00000526820.5:c.*247C>T	ENSP00000434413.1:n.*247C>T
ENST00000527076.1:n.1361C>T
ENST00000527168.5:n.381C>T
ENST00000529110.1:c.412C>T
ENST00000529957.5:n.444C>T
NM_032520.4:c.345C>T	NP_115909.1:p.Asn115=
XM_017023782.1:c.393C>T	XP_016879271.1:p.Asn131=
XM_017023783.1:c.-16C>T	XP_016879272.1:n.-16C>T
NM_032520.5:c.345C>T MANE Select	NP_115909.1:p.Asn115=