Canonical Allele Identifier: CA394187057

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411950T>G (hg19) ; chr16:g.1361949T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361949T>G , CM000678.2:g.1361949T>G	GRCh38
NC_000016.9:g.1411950T>G , CM000678.1:g.1411950T>G	GRCh37
NC_000016.8:g.1351951T>G	NCBI36
NG_016985.1:g.15051T>G
NG_033129.1:g.57756A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.410T>G
ENST00000529110.2:c.395T>G	ENSP00000435349.2:p.Ile132Ser
ENST00000529957.6:n.369T>G
ENST00000683366.1:c.*43T>G	ENSP00000507283.1:n.*43T>G
ENST00000683887.1:c.359T>G	ENSP00000506886.1:p.Ile120Ser
ENST00000684100.1:n.305T>G
ENST00000684126.1:n.369T>G
ENST00000684688.1:n.936T>G
ENST00000204679.9:c.311T>G MANE Select	ENSP00000204679.4:p.Ile104Ser
ENST00000204679.8:c.311T>G	ENSP00000204679.4:p.Ile104Ser
ENST00000526820.5:c.*213T>G	ENSP00000434413.1:n.*213T>G
ENST00000527076.1:n.1327T>G
ENST00000527168.5:n.347T>G
ENST00000529110.1:c.378T>G
ENST00000529957.5:n.410T>G
NM_032520.4:c.311T>G	NP_115909.1:p.Ile104Ser
XM_017023782.1:c.359T>G	XP_016879271.1:p.Ile120Ser
XM_017023783.1:c.-50T>G	XP_016879272.1:n.-50T>G
NM_032520.5:c.311T>G MANE Select	NP_115909.1:p.Ile104Ser