Canonical Allele Identifier: CA394188356

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412530C>T (hg19) ; chr16:g.1362529C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362529C>T , CM000678.2:g.1362529C>T	GRCh38
NC_000016.9:g.1412530C>T , CM000678.1:g.1412530C>T	GRCh37
NC_000016.8:g.1352531C>T	NCBI36
NG_016985.1:g.15631C>T
NG_033129.1:g.57176G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.703C>T
ENST00000529110.2:c.688C>T	ENSP00000435349.2:p.Pro230Ser
ENST00000529957.6:n.662C>T
ENST00000683366.1:c.*336C>T	ENSP00000507283.1:n.*336C>T
ENST00000683887.1:c.652C>T	ENSP00000506886.1:p.Pro218Ser
ENST00000684100.1:n.598C>T
ENST00000684126.1:n.662C>T
ENST00000684688.1:n.1229C>T
ENST00000204679.9:c.604C>T MANE Select	ENSP00000204679.4:p.Pro202Ser
ENST00000204679.8:c.604C>T	ENSP00000204679.4:p.Pro202Ser
ENST00000527076.1:n.1751C>T
ENST00000527168.5:n.771C>T
ENST00000529957.5:n.703C>T
NM_032520.4:c.604C>T	NP_115909.1:p.Pro202Ser
XM_017023782.1:c.652C>T	XP_016879271.1:p.Pro218Ser
XM_017023783.1:c.244C>T	XP_016879272.1:p.Pro82Ser
NM_032520.5:c.604C>T MANE Select	NP_115909.1:p.Pro202Ser