Canonical Allele Identifier: CA7807718

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 765077
• ClinVar RCV Id: RCV000943459 ; RCV001273759
• dbSNP Id: rs201168011
• ExAC: 16:1412272 C / T
• gnomAD v2: 16-1412272-C-T
• gnomAD v3: 16-1362271-C-T
• gnomAD v4: 16-1362271-C-T
• MyVariant Identifiers: chr16:g.1412272C>T (hg19) ; chr16:g.1362271C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362271C>T , CM000678.2:g.1362271C>T	GRCh38
NC_000016.9:g.1412272C>T , CM000678.1:g.1412272C>T	GRCh37
NC_000016.8:g.1352273C>T	NCBI36
NG_016985.1:g.15373C>T
NG_033129.1:g.57434G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.576C>T
ENST00000529110.2:c.561C>T	ENSP00000435349.2:p.Tyr187=
ENST00000529957.6:n.535C>T
ENST00000683366.1:c.*209C>T	ENSP00000507283.1:n.*209C>T
ENST00000683887.1:c.525C>T	ENSP00000506886.1:p.Tyr175=
ENST00000684100.1:n.471C>T
ENST00000684126.1:n.535C>T
ENST00000684688.1:n.1102C>T
ENST00000204679.9:c.477C>T MANE Select	ENSP00000204679.4:p.Tyr159=
ENST00000204679.8:c.477C>T	ENSP00000204679.4:p.Tyr159=
ENST00000527076.1:n.1493C>T
ENST00000527168.5:n.513C>T
ENST00000529110.1:c.544C>T
ENST00000529957.5:n.576C>T
NM_032520.4:c.477C>T	NP_115909.1:p.Tyr159=
XM_017023782.1:c.525C>T	XP_016879271.1:p.Tyr175=
XM_017023783.1:c.117C>T	XP_016879272.1:p.Tyr39=
NM_032520.5:c.477C>T MANE Select	NP_115909.1:p.Tyr159=