Canonical Allele Identifier: CA493026557

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1143466
• ClinVar RCV Id: RCV001481639
• dbSNP Id: rs1727079911
• MyVariant Identifiers: chr16:g.1412299C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362298C>T , CM000678.2:g.1362298C>T	GRCh38
NC_000016.9:g.1412299C>T , CM000678.1:g.1412299C>T	GRCh37
NC_000016.8:g.1352300C>T	NCBI36
NG_016985.1:g.15400C>T
NG_033129.1:g.57407G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.603C>T
ENST00000529110.2:c.588C>T	ENSP00000435349.2:p.Val196=
ENST00000529957.6:n.562C>T
ENST00000683366.1:c.*236C>T	ENSP00000507283.1:n.*236C>T
ENST00000683887.1:c.552C>T	ENSP00000506886.1:p.Val184=
ENST00000684100.1:n.498C>T
ENST00000684126.1:n.562C>T
ENST00000684688.1:n.1129C>T
ENST00000204679.9:c.504C>T MANE Select	ENSP00000204679.4:p.Val168=
ENST00000204679.8:c.504C>T	ENSP00000204679.4:p.Val168=
ENST00000527076.1:n.1520C>T
ENST00000527168.5:n.540C>T
ENST00000529957.5:n.603C>T
NM_032520.4:c.504C>T	NP_115909.1:p.Val168=
XM_017023782.1:c.552C>T	XP_016879271.1:p.Val184=
XM_017023783.1:c.144C>T	XP_016879272.1:p.Val48=
NM_032520.5:c.504C>T MANE Select	NP_115909.1:p.Val168=