Canonical Allele Identifier: CA493026466

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2706471
• ClinVar RCV Id: RCV003551993
• MyVariant Identifiers: chr16:g.1411930C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361929C>T , CM000678.2:g.1361929C>T	GRCh38
NC_000016.9:g.1411930C>T , CM000678.1:g.1411930C>T	GRCh37
NC_000016.8:g.1351931C>T	NCBI36
NG_016985.1:g.15031C>T
NG_033129.1:g.57776G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.390C>T
ENST00000529110.2:c.375C>T	ENSP00000435349.2:p.Arg125=
ENST00000529957.6:n.349C>T
ENST00000683366.1:c.*23C>T	ENSP00000507283.1:n.*23C>T
ENST00000683887.1:c.339C>T	ENSP00000506886.1:p.Arg113=
ENST00000684100.1:n.285C>T
ENST00000684126.1:n.349C>T
ENST00000684688.1:n.916C>T
ENST00000204679.9:c.291C>T MANE Select	ENSP00000204679.4:p.Arg97=
ENST00000204679.8:c.291C>T	ENSP00000204679.4:p.Arg97=
ENST00000526820.5:c.*193C>T	ENSP00000434413.1:n.*193C>T
ENST00000527076.1:n.1307C>T
ENST00000527168.5:n.327C>T
ENST00000529110.1:c.358C>T
ENST00000529957.5:n.390C>T
NM_032520.4:c.291C>T	NP_115909.1:p.Arg97=
XM_017023782.1:c.339C>T	XP_016879271.1:p.Arg113=
XM_017023783.1:c.-70C>T	XP_016879272.1:n.-70C>T
NM_032520.5:c.291C>T MANE Select	NP_115909.1:p.Arg97=