Canonical Allele Identifier: CA7807735

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1123467
• ClinVar RCV Id: RCV001454488
• dbSNP Id: rs752525561
• ExAC: 16:1412290 C / T
• gnomAD v2: 16-1412290-C-T
• gnomAD v4: 16-1362289-C-T
• MyVariant Identifiers: chr16:g.1412290C>T (hg19) ; chr16:g.1362289C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362289C>T , CM000678.2:g.1362289C>T	GRCh38
NC_000016.9:g.1412290C>T , CM000678.1:g.1412290C>T	GRCh37
NC_000016.8:g.1352291C>T	NCBI36
NG_016985.1:g.15391C>T
NG_033129.1:g.57416G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.594C>T
ENST00000529110.2:c.579C>T	ENSP00000435349.2:p.Thr193=
ENST00000529957.6:n.553C>T
ENST00000683366.1:c.*227C>T	ENSP00000507283.1:n.*227C>T
ENST00000683887.1:c.543C>T	ENSP00000506886.1:p.Thr181=
ENST00000684100.1:n.489C>T
ENST00000684126.1:n.553C>T
ENST00000684688.1:n.1120C>T
ENST00000204679.9:c.495C>T MANE Select	ENSP00000204679.4:p.Thr165=
ENST00000204679.8:c.495C>T	ENSP00000204679.4:p.Thr165=
ENST00000527076.1:n.1511C>T
ENST00000527168.5:n.531C>T
ENST00000529957.5:n.594C>T
NM_032520.4:c.495C>T	NP_115909.1:p.Thr165=
XM_017023782.1:c.543C>T	XP_016879271.1:p.Thr181=
XM_017023783.1:c.135C>T	XP_016879272.1:p.Thr45=
NM_032520.5:c.495C>T MANE Select	NP_115909.1:p.Thr165=