Canonical Allele Identifier: CA394187239

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412066C>A (hg19) ; chr16:g.1362065C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362065C>A , CM000678.2:g.1362065C>A	GRCh38
NC_000016.9:g.1412066C>A , CM000678.1:g.1412066C>A	GRCh37
NC_000016.8:g.1352067C>A	NCBI36
NG_016985.1:g.15167C>A
NG_033129.1:g.57640G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.444C>A
ENST00000529110.2:c.429C>A	ENSP00000435349.2:p.Asn143Lys
ENST00000529957.6:n.403C>A
ENST00000683366.1:c.*77C>A	ENSP00000507283.1:n.*77C>A
ENST00000683887.1:c.393C>A	ENSP00000506886.1:p.Asn131Lys
ENST00000684100.1:n.339C>A
ENST00000684126.1:n.403C>A
ENST00000684688.1:n.970C>A
ENST00000204679.9:c.345C>A MANE Select	ENSP00000204679.4:p.Asn115Lys
ENST00000204679.8:c.345C>A	ENSP00000204679.4:p.Asn115Lys
ENST00000526820.5:c.*247C>A	ENSP00000434413.1:n.*247C>A
ENST00000527076.1:n.1361C>A
ENST00000527168.5:n.381C>A
ENST00000529110.1:c.412C>A
ENST00000529957.5:n.444C>A
NM_032520.4:c.345C>A	NP_115909.1:p.Asn115Lys
XM_017023782.1:c.393C>A	XP_016879271.1:p.Asn131Lys
XM_017023783.1:c.-16C>A	XP_016879272.1:n.-16C>A
NM_032520.5:c.345C>A MANE Select	NP_115909.1:p.Asn115Lys