Canonical Allele Identifier: CA276656608

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 990360
• ClinVar RCV Id: RCV001278357
• dbSNP Id: rs149197775
• MyVariant Identifiers: chr16:g.1411908C>T (hg19) ; chr16:g.1361907C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361907C>T , CM000678.2:g.1361907C>T	GRCh38
NC_000016.9:g.1411908C>T , CM000678.1:g.1411908C>T	GRCh37
NC_000016.8:g.1351909C>T	NCBI36
NG_016985.1:g.15009C>T
NG_033129.1:g.57798G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.368C>T
ENST00000529110.2:c.353C>T	ENSP00000435349.2:p.Thr118Ile
ENST00000529957.6:n.327C>T
ENST00000683366.1:c.*1C>T	ENSP00000507283.1:n.*1C>T
ENST00000683887.1:c.317C>T	ENSP00000506886.1:p.Thr106Ile
ENST00000684100.1:n.263C>T
ENST00000684126.1:n.327C>T
ENST00000684688.1:n.894C>T
ENST00000204679.9:c.269C>T MANE Select	ENSP00000204679.4:p.Thr90Ile
ENST00000204679.8:c.269C>T	ENSP00000204679.4:p.Thr90Ile
ENST00000526820.5:c.*171C>T	ENSP00000434413.1:n.*171C>T
ENST00000527076.1:n.1285C>T
ENST00000527168.5:n.305C>T
ENST00000529110.1:c.336C>T
ENST00000529957.5:n.368C>T
NM_032520.4:c.269C>T	NP_115909.1:p.Thr90Ile
XM_017023782.1:c.317C>T	XP_016879271.1:p.Thr106Ile
XM_017023783.1:c.-92C>T	XP_016879272.1:n.-92C>T
NM_032520.5:c.269C>T MANE Select	NP_115909.1:p.Thr90Ile