Canonical Allele Identifier: CA493026490

Gene: GNPTG

Linked Data

• dbSNP Id: rs769001628
• gnomAD v2: 16-1411951-C-T
• gnomAD v4: 16-1361950-C-T
• MyVariant Identifiers: chr16:g.1411951C>T (hg19) ; chr16:g.1361950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361950C>T , CM000678.2:g.1361950C>T	GRCh38
NC_000016.9:g.1411951C>T , CM000678.1:g.1411951C>T	GRCh37
NC_000016.8:g.1351952C>T	NCBI36
NG_016985.1:g.15052C>T
NG_033129.1:g.57755G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.411C>T
ENST00000529110.2:c.396C>T	ENSP00000435349.2:p.Ile132=
ENST00000529957.6:n.370C>T
ENST00000683366.1:c.*44C>T	ENSP00000507283.1:n.*44C>T
ENST00000683887.1:c.360C>T	ENSP00000506886.1:p.Ile120=
ENST00000684100.1:n.306C>T
ENST00000684126.1:n.370C>T
ENST00000684688.1:n.937C>T
ENST00000204679.9:c.312C>T MANE Select	ENSP00000204679.4:p.Ile104=
ENST00000204679.8:c.312C>T	ENSP00000204679.4:p.Ile104=
ENST00000526820.5:c.*214C>T	ENSP00000434413.1:n.*214C>T
ENST00000527076.1:n.1328C>T
ENST00000527168.5:n.348C>T
ENST00000529110.1:c.379C>T
ENST00000529957.5:n.411C>T
NM_032520.4:c.312C>T	NP_115909.1:p.Ile104=
XM_017023782.1:c.360C>T	XP_016879271.1:p.Ile120=
XM_017023783.1:c.-49C>T	XP_016879272.1:n.-49C>T
NM_032520.5:c.312C>T MANE Select	NP_115909.1:p.Ile104=