Canonical Allele Identifier: CA394188787

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362887-C-G
• MyVariant Identifiers: chr16:g.1412888C>G (hg19) ; chr16:g.1362887C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362887C>G , CM000678.2:g.1362887C>G	GRCh38
NC_000016.9:g.1412888C>G , CM000678.1:g.1412888C>G	GRCh37
NC_000016.8:g.1352889C>G	NCBI36
NG_016985.1:g.15989C>G
NG_033129.1:g.56818G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.903C>G
ENST00000529110.2:c.888C>G	ENSP00000435349.2:p.Ile296Met
ENST00000529957.6:n.862C>G
ENST00000683366.1:c.*536C>G	ENSP00000507283.1:n.*536C>G
ENST00000683887.1:c.852C>G	ENSP00000506886.1:p.Ile284Met
ENST00000684100.1:n.798C>G
ENST00000684126.1:n.938C>G
ENST00000684688.1:n.1429C>G
ENST00000204679.9:c.804C>G MANE Select	ENSP00000204679.4:p.Ile268Met
ENST00000204679.8:c.804C>G	ENSP00000204679.4:p.Ile268Met
ENST00000527076.1:n.2027C>G
ENST00000527168.5:n.971C>G
ENST00000529957.5:n.903C>G
NM_032520.4:c.804C>G	NP_115909.1:p.Ile268Met
XM_017023782.1:c.852C>G	XP_016879271.1:p.Ile284Met
XM_017023783.1:c.444C>G	XP_016879272.1:p.Ile148Met
NM_032520.5:c.804C>G MANE Select	NP_115909.1:p.Ile268Met