Canonical Allele Identifier: CA394188361

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362532-C-G
• MyVariant Identifiers: chr16:g.1412533C>G (hg19) ; chr16:g.1362532C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362532C>G , CM000678.2:g.1362532C>G	GRCh38
NC_000016.9:g.1412533C>G , CM000678.1:g.1412533C>G	GRCh37
NC_000016.8:g.1352534C>G	NCBI36
NG_016985.1:g.15634C>G
NG_033129.1:g.57173G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.706C>G
ENST00000529110.2:c.691C>G	ENSP00000435349.2:p.Gln231Glu
ENST00000529957.6:n.665C>G
ENST00000683366.1:c.*339C>G	ENSP00000507283.1:n.*339C>G
ENST00000683887.1:c.655C>G	ENSP00000506886.1:p.Gln219Glu
ENST00000684100.1:n.601C>G
ENST00000684126.1:n.665C>G
ENST00000684688.1:n.1232C>G
ENST00000204679.9:c.607C>G MANE Select	ENSP00000204679.4:p.Gln203Glu
ENST00000204679.8:c.607C>G	ENSP00000204679.4:p.Gln203Glu
ENST00000527076.1:n.1754C>G
ENST00000527168.5:n.774C>G
ENST00000529957.5:n.706C>G
NM_032520.4:c.607C>G	NP_115909.1:p.Gln203Glu
XM_017023782.1:c.655C>G	XP_016879271.1:p.Gln219Glu
XM_017023783.1:c.247C>G	XP_016879272.1:p.Gln83Glu
NM_032520.5:c.607C>G MANE Select	NP_115909.1:p.Gln203Glu