Canonical Allele Identifier: CA493026739
Gene: GNPTG HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.1412891C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362890C>G , CM000678.2:g.1362890C>G GRCh38
NC_000016.9:g.1412891C>G , CM000678.1:g.1412891C>G GRCh37
NC_000016.8:g.1352892C>G NCBI36
NG_016985.1:g.15992C>G
NG_033129.1:g.56815G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.906C>G
ENST00000529110.2:c.891C>G ENSP00000435349.2:p.Pro297=
ENST00000529957.6:n.865C>G
ENST00000683366.1:c.*539C>G ENSP00000507283.1:n.*539C>G
ENST00000683887.1:c.855C>G ENSP00000506886.1:p.Pro285=
ENST00000684100.1:n.801C>G
ENST00000684126.1:n.941C>G
ENST00000684688.1:n.1432C>G
ENST00000204679.9:c.807C>G MANE Select ENSP00000204679.4:p.Pro269=
ENST00000204679.8:c.807C>G ENSP00000204679.4:p.Pro269=
ENST00000527076.1:n.2030C>G
ENST00000527168.5:n.974C>G
ENST00000529957.5:n.906C>G
NM_032520.4:c.807C>G NP_115909.1:p.Pro269=
XM_017023782.1:c.855C>G XP_016879271.1:p.Pro285=
XM_017023783.1:c.447C>G XP_016879272.1:p.Pro149=
NM_032520.5:c.807C>G MANE Select NP_115909.1:p.Pro269=