Canonical Allele Identifier: CA658824126

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 559018
• ClinVar RCV Id: RCV000675969
• dbSNP Id: rs746507546
• MyVariant Identifiers: chr16:g.1411716C>G (hg19) ; chr16:g.1361715C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361715C>G , CM000678.2:g.1361715C>G	GRCh38
NC_000016.9:g.1411716C>G , CM000678.1:g.1411716C>G	GRCh37
NC_000016.8:g.1351717C>G	NCBI36
NG_016985.1:g.14817C>G
NG_033129.1:g.57990G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.278-28C>G
ENST00000529110.2:c.263-28C>G	ENSP00000435349.2:n.263-28C>G
ENST00000529957.6:n.237-28C>G
ENST00000683366.1:c.179-157C>G	ENSP00000507283.1:n.179-157C>G
ENST00000683887.1:c.199C>G	ENSP00000506886.1:p.Leu67Val
ENST00000684100.1:n.71C>G
ENST00000684126.1:n.237-28C>G
ENST00000684688.1:n.776C>G
ENST00000204679.9:c.179-28C>G MANE Select	ENSP00000204679.4:n.179-28C>G
ENST00000204679.8:c.179-28C>G	ENSP00000204679.4:n.179-28C>G
ENST00000526820.5:c.*81-28C>G	ENSP00000434413.1:n.*81-28C>G
ENST00000527076.1:n.1093C>G
ENST00000527168.5:n.270-157C>G
ENST00000529110.1:c.246-28C>G
ENST00000529957.5:n.278-28C>G
NM_032520.4:c.179-28C>G	NP_115909.1:n.179-28C>G
XM_017023782.1:c.199C>G	XP_016879271.1:p.Leu67Val
XM_017023783.1:c.-182-28C>G	XP_016879272.1:n.-182-28C>G
NM_032520.5:c.179-28C>G MANE Select	NP_115909.1:n.179-28C>G