Canonical Allele Identifier: CA394187896

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362283-C-G
• MyVariant Identifiers: chr16:g.1412284C>G (hg19) ; chr16:g.1362283C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362283C>G , CM000678.2:g.1362283C>G	GRCh38
NC_000016.9:g.1412284C>G , CM000678.1:g.1412284C>G	GRCh37
NC_000016.8:g.1352285C>G	NCBI36
NG_016985.1:g.15385C>G
NG_033129.1:g.57422G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.588C>G
ENST00000529110.2:c.573C>G	ENSP00000435349.2:p.Phe191Leu
ENST00000529957.6:n.547C>G
ENST00000683366.1:c.*221C>G	ENSP00000507283.1:n.*221C>G
ENST00000683887.1:c.537C>G	ENSP00000506886.1:p.Phe179Leu
ENST00000684100.1:n.483C>G
ENST00000684126.1:n.547C>G
ENST00000684688.1:n.1114C>G
ENST00000204679.9:c.489C>G MANE Select	ENSP00000204679.4:p.Phe163Leu
ENST00000204679.8:c.489C>G	ENSP00000204679.4:p.Phe163Leu
ENST00000527076.1:n.1505C>G
ENST00000527168.5:n.525C>G
ENST00000529957.5:n.588C>G
NM_032520.4:c.489C>G	NP_115909.1:p.Phe163Leu
XM_017023782.1:c.537C>G	XP_016879271.1:p.Phe179Leu
XM_017023783.1:c.129C>G	XP_016879272.1:p.Phe43Leu
NM_032520.5:c.489C>G MANE Select	NP_115909.1:p.Phe163Leu