Canonical Allele Identifier: CA718227180

Gene: GNPTG

Linked Data

• dbSNP Id: rs1229851767
• gnomAD v3: 16-1361702-C-G
• gnomAD v4: 16-1361702-C-G
• MyVariant Identifiers: chr16:g.1411703C>G (hg19) ; chr16:g.1361702C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361702C>G , CM000678.2:g.1361702C>G	GRCh38
NC_000016.9:g.1411703C>G , CM000678.1:g.1411703C>G	GRCh37
NC_000016.8:g.1351704C>G	NCBI36
NG_016985.1:g.14804C>G
NG_033129.1:g.58003G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.278-41C>G
ENST00000529110.2:c.263-41C>G	ENSP00000435349.2:n.263-41C>G
ENST00000529957.6:n.237-41C>G
ENST00000683366.1:c.179-170C>G	ENSP00000507283.1:n.179-170C>G
ENST00000683887.1:c.186C>G	ENSP00000506886.1:p.Phe62Leu
ENST00000684100.1:n.58C>G
ENST00000684126.1:n.237-41C>G
ENST00000684688.1:n.763C>G
ENST00000204679.9:c.179-41C>G MANE Select	ENSP00000204679.4:n.179-41C>G
ENST00000204679.8:c.179-41C>G	ENSP00000204679.4:n.179-41C>G
ENST00000526820.5:c.*81-41C>G	ENSP00000434413.1:n.*81-41C>G
ENST00000527076.1:n.1080C>G
ENST00000527168.5:n.270-170C>G
ENST00000529110.1:c.246-41C>G
ENST00000529957.5:n.278-41C>G
NM_032520.4:c.179-41C>G	NP_115909.1:n.179-41C>G
XM_017023782.1:c.186C>G	XP_016879271.1:p.Phe62Leu
XM_017023783.1:c.-182-41C>G	XP_016879272.1:n.-182-41C>G
NM_032520.5:c.179-41C>G MANE Select	NP_115909.1:n.179-41C>G