Canonical Allele Identifier: CA7807822

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 728433
• ClinVar RCV Id: RCV000902917 ; RCV001273761 ; RCV003968274
• dbSNP Id: rs146171435
• ExAC: 16:1412529 C / T
• gnomAD v2: 16-1412529-C-T
• gnomAD v3: 16-1362528-C-T
• gnomAD v4: 16-1362528-C-T
• COSMIC: COSM2148936
• MyVariant Identifiers: chr16:g.1412529C>T (hg19) ; chr16:g.1362528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362528C>T , CM000678.2:g.1362528C>T	GRCh38
NC_000016.9:g.1412529C>T , CM000678.1:g.1412529C>T	GRCh37
NC_000016.8:g.1352530C>T	NCBI36
NG_016985.1:g.15630C>T
NG_033129.1:g.57177G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.702C>T
ENST00000529110.2:c.687C>T	ENSP00000435349.2:p.Thr229=
ENST00000529957.6:n.661C>T
ENST00000683366.1:c.*335C>T	ENSP00000507283.1:n.*335C>T
ENST00000683887.1:c.651C>T	ENSP00000506886.1:p.Thr217=
ENST00000684100.1:n.597C>T
ENST00000684126.1:n.661C>T
ENST00000684688.1:n.1228C>T
ENST00000204679.9:c.603C>T MANE Select	ENSP00000204679.4:p.Thr201=
ENST00000204679.8:c.603C>T	ENSP00000204679.4:p.Thr201=
ENST00000527076.1:n.1750C>T
ENST00000527168.5:n.770C>T
ENST00000529957.5:n.702C>T
NM_032520.4:c.603C>T	NP_115909.1:p.Thr201=
XM_017023782.1:c.651C>T	XP_016879271.1:p.Thr217=
XM_017023783.1:c.243C>T	XP_016879272.1:p.Thr81=
NM_032520.5:c.603C>T MANE Select	NP_115909.1:p.Thr201=