Canonical Allele Identifier: CA276656630

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1158079
• ClinVar RCV Id: RCV001501375
• dbSNP Id: rs201992413
• gnomAD v2: 16-1411915-C-T
• gnomAD v3: 16-1361914-C-T
• gnomAD v4: 16-1361914-C-T
• COSMIC: COSM5483984
• MyVariant Identifiers: chr16:g.1411915C>T (hg19) ; chr16:g.1361914C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361914C>T , CM000678.2:g.1361914C>T	GRCh38
NC_000016.9:g.1411915C>T , CM000678.1:g.1411915C>T	GRCh37
NC_000016.8:g.1351916C>T	NCBI36
NG_016985.1:g.15016C>T
NG_033129.1:g.57791G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.375C>T
ENST00000529110.2:c.360C>T	ENSP00000435349.2:p.His120=
ENST00000529957.6:n.334C>T
ENST00000683366.1:c.*8C>T	ENSP00000507283.1:n.*8C>T
ENST00000683887.1:c.324C>T	ENSP00000506886.1:p.His108=
ENST00000684100.1:n.270C>T
ENST00000684126.1:n.334C>T
ENST00000684688.1:n.901C>T
ENST00000204679.9:c.276C>T MANE Select	ENSP00000204679.4:p.His92=
ENST00000204679.8:c.276C>T	ENSP00000204679.4:p.His92=
ENST00000526820.5:c.*178C>T	ENSP00000434413.1:n.*178C>T
ENST00000527076.1:n.1292C>T
ENST00000527168.5:n.312C>T
ENST00000529110.1:c.343C>T
ENST00000529957.5:n.375C>T
NM_032520.4:c.276C>T	NP_115909.1:p.His92=
XM_017023782.1:c.324C>T	XP_016879271.1:p.His108=
XM_017023783.1:c.-85C>T	XP_016879272.1:n.-85C>T
NM_032520.5:c.276C>T MANE Select	NP_115909.1:p.His92=