Canonical Allele Identifier: CA2573151731

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1357296
• ClinVar RCV Id: RCV001878288
• dbSNP Id: rs2141863669

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362526_1362527dup , CM000678.2:g.1362526_1362527dup	GRCh38
NC_000016.9:g.1412527_1412528dup , CM000678.1:g.1412527_1412528dup	GRCh37
NC_000016.8:g.1352528_1352529dup	NCBI36
NG_016985.1:g.15628_15629dup
NG_033129.1:g.57179_57180dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.700_701dup
ENST00000529110.2:c.685_686dup	ENSP00000435349.2:p.Gln231ProfsTer8
ENST00000529957.6:n.659_660dup
ENST00000683366.1:c.*333_*334dup	ENSP00000507283.1:n.*333_*334dup
ENST00000683887.1:c.649_650dup	ENSP00000506886.1:p.Gln219ProfsTer8
ENST00000684100.1:n.595_596dup
ENST00000684126.1:n.659_660dup
ENST00000684688.1:n.1226_1227dup
ENST00000204679.9:c.601_602dup MANE Select	ENSP00000204679.4:p.Gln203ProfsTer8
ENST00000204679.8:c.601_602dup	ENSP00000204679.4:p.Gln203ProfsTer8
ENST00000527076.1:n.1748_1749dup
ENST00000527168.5:n.768_769dup
ENST00000529957.5:n.700_701dup
NM_032520.4:c.601_602dup	NP_115909.1:p.Gln203ProfsTer8
XM_017023782.1:c.649_650dup	XP_016879271.1:p.Gln219ProfsTer8
XM_017023783.1:c.241_242dup	XP_016879272.1:p.Gln83ProfsTer8
NM_032520.5:c.601_602dup MANE Select	NP_115909.1:p.Gln203ProfsTer8