Canonical Allele Identifier: CA394188731

Gene: GNPTG

Linked Data

• dbSNP Id: rs2141865321
• MyVariant Identifiers: chr16:g.1412858G>T (hg19) ; chr16:g.1362857G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362857G>T , CM000678.2:g.1362857G>T	GRCh38
NC_000016.9:g.1412858G>T , CM000678.1:g.1412858G>T	GRCh37
NC_000016.8:g.1352859G>T	NCBI36
NG_016985.1:g.15959G>T
NG_033129.1:g.56848C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.873G>T
ENST00000529110.2:c.858G>T	ENSP00000435349.2:p.Arg286Ser
ENST00000529957.6:n.832G>T
ENST00000683366.1:c.*506G>T	ENSP00000507283.1:n.*506G>T
ENST00000683887.1:c.822G>T	ENSP00000506886.1:p.Arg274Ser
ENST00000684100.1:n.768G>T
ENST00000684126.1:n.908G>T
ENST00000684688.1:n.1399G>T
ENST00000204679.9:c.774G>T MANE Select	ENSP00000204679.4:p.Arg258Ser
ENST00000204679.8:c.774G>T	ENSP00000204679.4:p.Arg258Ser
ENST00000527076.1:n.1997G>T
ENST00000527168.5:n.941G>T
ENST00000529957.5:n.873G>T
NM_032520.4:c.774G>T	NP_115909.1:p.Arg258Ser
XM_017023782.1:c.822G>T	XP_016879271.1:p.Arg274Ser
XM_017023783.1:c.414G>T	XP_016879272.1:p.Arg138Ser
NM_032520.5:c.774G>T MANE Select	NP_115909.1:p.Arg258Ser