Canonical Allele Identifier: CA394188066

Gene: GNPTG

Linked Data

• dbSNP Id: rs1214423764
• MyVariant Identifiers: chr16:g.1412462C>T (hg19) ; chr16:g.1362461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362461C>T , CM000678.2:g.1362461C>T	GRCh38
NC_000016.9:g.1412462C>T , CM000678.1:g.1412462C>T	GRCh37
NC_000016.8:g.1352463C>T	NCBI36
NG_016985.1:g.15563C>T
NG_033129.1:g.57244G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.635C>T
ENST00000529110.2:c.620C>T	ENSP00000435349.2:p.Thr207Ile
ENST00000529957.6:n.594C>T
ENST00000683366.1:c.*268C>T	ENSP00000507283.1:n.*268C>T
ENST00000683887.1:c.584C>T	ENSP00000506886.1:p.Thr195Ile
ENST00000684100.1:n.530C>T
ENST00000684126.1:n.594C>T
ENST00000684688.1:n.1161C>T
ENST00000204679.9:c.536C>T MANE Select	ENSP00000204679.4:p.Thr179Ile
ENST00000204679.8:c.536C>T	ENSP00000204679.4:p.Thr179Ile
ENST00000527076.1:n.1683C>T
ENST00000527168.5:n.703C>T
ENST00000529957.5:n.635C>T
NM_032520.4:c.536C>T	NP_115909.1:p.Thr179Ile
XM_017023782.1:c.584C>T	XP_016879271.1:p.Thr195Ile
XM_017023783.1:c.176C>T	XP_016879272.1:p.Thr59Ile
NM_032520.5:c.536C>T MANE Select	NP_115909.1:p.Thr179Ile