Canonical Allele Identifier: CA7807617

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1221153
• ClinVar RCV Id: RCV001597342
• dbSNP Id: rs2072987
• ExAC: 16:1412005 C / T
• gnomAD v2: 16-1412005-C-T
• gnomAD v3: 16-1362004-C-T
• gnomAD v4: 16-1362004-C-T
• COSMIC: COSN5267062 ; COSN5267063
• MyVariant Identifiers: chr16:g.1412005C>T (hg19) ; chr16:g.1362004C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362004C>T , CM000678.2:g.1362004C>T	GRCh38
NC_000016.9:g.1412005C>T , CM000678.1:g.1412005C>T	GRCh37
NC_000016.8:g.1352006C>T	NCBI36
NG_016985.1:g.15106C>T
NG_033129.1:g.57701G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.417-34C>T
ENST00000529110.2:c.402-34C>T	ENSP00000435349.2:n.402-34C>T
ENST00000529957.6:n.376-34C>T
ENST00000683366.1:c.*50-34C>T	ENSP00000507283.1:n.*50-34C>T
ENST00000683887.1:c.366-34C>T	ENSP00000506886.1:n.366-34C>T
ENST00000684100.1:n.312-34C>T
ENST00000684126.1:n.376-34C>T
ENST00000684688.1:n.943-34C>T
ENST00000204679.9:c.318-34C>T MANE Select	ENSP00000204679.4:n.318-34C>T
ENST00000204679.8:c.318-34C>T	ENSP00000204679.4:n.318-34C>T
ENST00000526820.5:c.*220-34C>T	ENSP00000434413.1:n.*220-34C>T
ENST00000527076.1:n.1334-34C>T
ENST00000527168.5:n.354-34C>T
ENST00000529110.1:c.385-34C>T
ENST00000529957.5:n.417-34C>T
NM_032520.4:c.318-34C>T	NP_115909.1:n.318-34C>T
XM_017023782.1:c.366-34C>T	XP_016879271.1:n.366-34C>T
XM_017023783.1:c.-43-34C>T	XP_016879272.1:n.-43-34C>T
NM_032520.5:c.318-34C>T MANE Select	NP_115909.1:n.318-34C>T