Canonical Allele Identifier: CA7807728

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 317884
• ClinVar RCV Id: RCV000290708 ; RCV000974327
• dbSNP Id: rs370857842
• ExAC: 16:1412284 C / T
• gnomAD v2: 16-1412284-C-T
• gnomAD v3: 16-1362283-C-T
• gnomAD v4: 16-1362283-C-T
• COSMIC: COSM1749415
• MyVariant Identifiers: chr16:g.1412284C>T (hg19) ; chr16:g.1362283C>T (hg38)
• PubMed: PMID:24463507

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362283C>T , CM000678.2:g.1362283C>T	GRCh38
NC_000016.9:g.1412284C>T , CM000678.1:g.1412284C>T	GRCh37
NC_000016.8:g.1352285C>T	NCBI36
NG_016985.1:g.15385C>T
NG_033129.1:g.57422G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.588C>T
ENST00000529110.2:c.573C>T	ENSP00000435349.2:p.Phe191=
ENST00000529957.6:n.547C>T
ENST00000683366.1:c.*221C>T	ENSP00000507283.1:n.*221C>T
ENST00000683887.1:c.537C>T	ENSP00000506886.1:p.Phe179=
ENST00000684100.1:n.483C>T
ENST00000684126.1:n.547C>T
ENST00000684688.1:n.1114C>T
ENST00000204679.9:c.489C>T MANE Select	ENSP00000204679.4:p.Phe163=
ENST00000204679.8:c.489C>T	ENSP00000204679.4:p.Phe163=
ENST00000527076.1:n.1505C>T
ENST00000527168.5:n.525C>T
ENST00000529957.5:n.588C>T
NM_032520.4:c.489C>T	NP_115909.1:p.Phe163=
XM_017023782.1:c.537C>T	XP_016879271.1:p.Phe179=
XM_017023783.1:c.129C>T	XP_016879272.1:p.Phe43=
NM_032520.5:c.489C>T MANE Select	NP_115909.1:p.Phe163=