Canonical Allele Identifier: CA394187863

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2440579
• ClinVar RCV Id: RCV003143371
• MyVariant Identifiers: chr16:g.1412272C>G (hg19) ; chr16:g.1362271C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.576C>G
ENST00000529110.2:c.561C>G	ENSP00000435349.2:p.Tyr187Ter
ENST00000529957.6:n.535C>G
ENST00000683366.1:c.*209C>G	ENSP00000507283.1:n.*209C>G
ENST00000683887.1:c.525C>G	ENSP00000506886.1:p.Tyr175Ter
ENST00000684100.1:n.471C>G
ENST00000684126.1:n.535C>G
ENST00000684688.1:n.1102C>G
ENST00000204679.9:c.477C>G MANE Select	ENSP00000204679.4:p.Tyr159Ter
ENST00000204679.8:c.477C>G	ENSP00000204679.4:p.Tyr159Ter
ENST00000527076.1:n.1493C>G
ENST00000527168.5:n.513C>G
ENST00000529110.1:c.544C>G
ENST00000529957.5:n.576C>G
NM_032520.4:c.477C>G	NP_115909.1:p.Tyr159Ter
XM_017023782.1:c.525C>G	XP_016879271.1:p.Tyr175Ter
XM_017023783.1:c.117C>G	XP_016879272.1:p.Tyr39Ter
NM_032520.5:c.477C>G MANE Select	NP_115909.1:p.Tyr159Ter