Canonical Allele Identifier: CA394188790

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 963830
• ClinVar RCV Id: RCV001237920
• dbSNP Id: rs1567185562
• gnomAD v2: 16-1412889-C-T
• gnomAD v3: 16-1362888-C-T
• gnomAD v4: 16-1362888-C-T
• MyVariant Identifiers: chr16:g.1412889C>T (hg19) ; chr16:g.1362888C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362888C>T , CM000678.2:g.1362888C>T	GRCh38
NC_000016.9:g.1412889C>T , CM000678.1:g.1412889C>T	GRCh37
NC_000016.8:g.1352890C>T	NCBI36
NG_016985.1:g.15990C>T
NG_033129.1:g.56817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.904C>T
ENST00000529110.2:c.889C>T	ENSP00000435349.2:p.Pro297Ser
ENST00000529957.6:n.863C>T
ENST00000683366.1:c.*537C>T	ENSP00000507283.1:n.*537C>T
ENST00000683887.1:c.853C>T	ENSP00000506886.1:p.Pro285Ser
ENST00000684100.1:n.799C>T
ENST00000684126.1:n.939C>T
ENST00000684688.1:n.1430C>T
ENST00000204679.9:c.805C>T MANE Select	ENSP00000204679.4:p.Pro269Ser
ENST00000204679.8:c.805C>T	ENSP00000204679.4:p.Pro269Ser
ENST00000527076.1:n.2028C>T
ENST00000527168.5:n.972C>T
ENST00000529957.5:n.904C>T
NM_032520.4:c.805C>T	NP_115909.1:p.Pro269Ser
XM_017023782.1:c.853C>T	XP_016879271.1:p.Pro285Ser
XM_017023783.1:c.445C>T	XP_016879272.1:p.Pro149Ser
NM_032520.5:c.805C>T MANE Select	NP_115909.1:p.Pro269Ser