Canonical Allele Identifier: CA394188750

Gene: GNPTG

Linked Data

• dbSNP Id: rs1189402444
• gnomAD v3: 16-1362867-T-G
• gnomAD v4: 16-1362867-T-G
• MyVariant Identifiers: chr16:g.1412868T>G (hg19) ; chr16:g.1362867T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362867T>G , CM000678.2:g.1362867T>G	GRCh38
NC_000016.9:g.1412868T>G , CM000678.1:g.1412868T>G	GRCh37
NC_000016.8:g.1352869T>G	NCBI36
NG_016985.1:g.15969T>G
NG_033129.1:g.56838A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.883T>G
ENST00000529110.2:c.868T>G	ENSP00000435349.2:p.Leu290Val
ENST00000529957.6:n.842T>G
ENST00000683366.1:c.*516T>G	ENSP00000507283.1:n.*516T>G
ENST00000683887.1:c.832T>G	ENSP00000506886.1:p.Leu278Val
ENST00000684100.1:n.778T>G
ENST00000684126.1:n.918T>G
ENST00000684688.1:n.1409T>G
ENST00000204679.9:c.784T>G MANE Select	ENSP00000204679.4:p.Leu262Val
ENST00000204679.8:c.784T>G	ENSP00000204679.4:p.Leu262Val
ENST00000527076.1:n.2007T>G
ENST00000527168.5:n.951T>G
ENST00000529957.5:n.883T>G
NM_032520.4:c.784T>G	NP_115909.1:p.Leu262Val
XM_017023782.1:c.832T>G	XP_016879271.1:p.Leu278Val
XM_017023783.1:c.424T>G	XP_016879272.1:p.Leu142Val
NM_032520.5:c.784T>G MANE Select	NP_115909.1:p.Leu262Val