Canonical Allele Identifier: CA394188753

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362868-T-G
• MyVariant Identifiers: chr16:g.1412869T>G (hg19) ; chr16:g.1362868T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362868T>G , CM000678.2:g.1362868T>G	GRCh38
NC_000016.9:g.1412869T>G , CM000678.1:g.1412869T>G	GRCh37
NC_000016.8:g.1352870T>G	NCBI36
NG_016985.1:g.15970T>G
NG_033129.1:g.56837A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.884T>G
ENST00000529110.2:c.869T>G	ENSP00000435349.2:p.Leu290Trp
ENST00000529957.6:n.843T>G
ENST00000683366.1:c.*517T>G	ENSP00000507283.1:n.*517T>G
ENST00000683887.1:c.833T>G	ENSP00000506886.1:p.Leu278Trp
ENST00000684100.1:n.779T>G
ENST00000684126.1:n.919T>G
ENST00000684688.1:n.1410T>G
ENST00000204679.9:c.785T>G MANE Select	ENSP00000204679.4:p.Leu262Trp
ENST00000204679.8:c.785T>G	ENSP00000204679.4:p.Leu262Trp
ENST00000527076.1:n.2008T>G
ENST00000527168.5:n.952T>G
ENST00000529957.5:n.884T>G
NM_032520.4:c.785T>G	NP_115909.1:p.Leu262Trp
XM_017023782.1:c.833T>G	XP_016879271.1:p.Leu278Trp
XM_017023783.1:c.425T>G	XP_016879272.1:p.Leu142Trp
NM_032520.5:c.785T>G MANE Select	NP_115909.1:p.Leu262Trp