Canonical Allele Identifier: CA394187886

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412279A>C (hg19) ; chr16:g.1362278A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362278A>C , CM000678.2:g.1362278A>C	GRCh38
NC_000016.9:g.1412279A>C , CM000678.1:g.1412279A>C	GRCh37
NC_000016.8:g.1352280A>C	NCBI36
NG_016985.1:g.15380A>C
NG_033129.1:g.57427T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.583A>C
ENST00000529110.2:c.568A>C	ENSP00000435349.2:p.Thr190Pro
ENST00000529957.6:n.542A>C
ENST00000683366.1:c.*216A>C	ENSP00000507283.1:n.*216A>C
ENST00000683887.1:c.532A>C	ENSP00000506886.1:p.Thr178Pro
ENST00000684100.1:n.478A>C
ENST00000684126.1:n.542A>C
ENST00000684688.1:n.1109A>C
ENST00000204679.9:c.484A>C MANE Select	ENSP00000204679.4:p.Thr162Pro
ENST00000204679.8:c.484A>C	ENSP00000204679.4:p.Thr162Pro
ENST00000527076.1:n.1500A>C
ENST00000527168.5:n.520A>C
ENST00000529110.1:c.551A>C
ENST00000529957.5:n.583A>C
NM_032520.4:c.484A>C	NP_115909.1:p.Thr162Pro
XM_017023782.1:c.532A>C	XP_016879271.1:p.Thr178Pro
XM_017023783.1:c.124A>C	XP_016879272.1:p.Thr42Pro
NM_032520.5:c.484A>C MANE Select	NP_115909.1:p.Thr162Pro