Canonical Allele Identifier: CA7807715

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1122665
• ClinVar RCV Id: RCV001453439
• dbSNP Id: rs564859061
• ExAC: 16:1412266 C / T
• gnomAD v2: 16-1412266-C-T
• gnomAD v3: 16-1362265-C-T
• gnomAD v4: 16-1362265-C-T
• MyVariant Identifiers: chr16:g.1412266C>T (hg19) ; chr16:g.1362265C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362265C>T , CM000678.2:g.1362265C>T	GRCh38
NC_000016.9:g.1412266C>T , CM000678.1:g.1412266C>T	GRCh37
NC_000016.8:g.1352267C>T	NCBI36
NG_016985.1:g.15367C>T
NG_033129.1:g.57440G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.570C>T
ENST00000529110.2:c.555C>T	ENSP00000435349.2:p.Cys185=
ENST00000529957.6:n.529C>T
ENST00000683366.1:c.*203C>T	ENSP00000507283.1:n.*203C>T
ENST00000683887.1:c.519C>T	ENSP00000506886.1:p.Cys173=
ENST00000684100.1:n.465C>T
ENST00000684126.1:n.529C>T
ENST00000684688.1:n.1096C>T
ENST00000204679.9:c.471C>T MANE Select	ENSP00000204679.4:p.Cys157=
ENST00000204679.8:c.471C>T	ENSP00000204679.4:p.Cys157=
ENST00000527076.1:n.1487C>T
ENST00000527168.5:n.507C>T
ENST00000529110.1:c.538C>T
ENST00000529957.5:n.570C>T
NM_032520.4:c.471C>T	NP_115909.1:p.Cys157=
XM_017023782.1:c.519C>T	XP_016879271.1:p.Cys173=
XM_017023783.1:c.111C>T	XP_016879272.1:p.Cys37=
NM_032520.5:c.471C>T MANE Select	NP_115909.1:p.Cys157=