Canonical Allele Identifier: CA493026708

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1090320
• ClinVar RCV Id: RCV001409393
• dbSNP Id: rs2141865168
• MyVariant Identifiers: chr16:g.1412840C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362839C>T , CM000678.2:g.1362839C>T	GRCh38
NC_000016.9:g.1412840C>T , CM000678.1:g.1412840C>T	GRCh37
NC_000016.8:g.1352841C>T	NCBI36
NG_016985.1:g.15941C>T
NG_033129.1:g.56866G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.855C>T
ENST00000529110.2:c.840C>T	ENSP00000435349.2:p.Leu280=
ENST00000529957.6:n.814C>T
ENST00000683366.1:c.*488C>T	ENSP00000507283.1:n.*488C>T
ENST00000683887.1:c.804C>T	ENSP00000506886.1:p.Leu268=
ENST00000684100.1:n.750C>T
ENST00000684126.1:n.890C>T
ENST00000684688.1:n.1381C>T
ENST00000204679.9:c.756C>T MANE Select	ENSP00000204679.4:p.Leu252=
ENST00000204679.8:c.756C>T	ENSP00000204679.4:p.Leu252=
ENST00000527076.1:n.1979C>T
ENST00000527168.5:n.923C>T
ENST00000529957.5:n.855C>T
NM_032520.4:c.756C>T	NP_115909.1:p.Leu252=
XM_017023782.1:c.804C>T	XP_016879271.1:p.Leu268=
XM_017023783.1:c.396C>T	XP_016879272.1:p.Leu132=
NM_032520.5:c.756C>T MANE Select	NP_115909.1:p.Leu252=