Canonical Allele Identifier: CA493026700

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412828T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362827T>C , CM000678.2:g.1362827T>C	GRCh38
NC_000016.9:g.1412828T>C , CM000678.1:g.1412828T>C	GRCh37
NC_000016.8:g.1352829T>C	NCBI36
NG_016985.1:g.15929T>C
NG_033129.1:g.56878A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.843T>C
ENST00000529110.2:c.828T>C	ENSP00000435349.2:p.Ala276=
ENST00000529957.6:n.802T>C
ENST00000683366.1:c.*476T>C	ENSP00000507283.1:n.*476T>C
ENST00000683887.1:c.792T>C	ENSP00000506886.1:p.Ala264=
ENST00000684100.1:n.738T>C
ENST00000684126.1:n.878T>C
ENST00000684688.1:n.1369T>C
ENST00000204679.9:c.744T>C MANE Select	ENSP00000204679.4:p.Ala248=
ENST00000204679.8:c.744T>C	ENSP00000204679.4:p.Ala248=
ENST00000527076.1:n.1967T>C
ENST00000527168.5:n.911T>C
ENST00000529957.5:n.843T>C
NM_032520.4:c.744T>C	NP_115909.1:p.Ala248=
XM_017023782.1:c.792T>C	XP_016879271.1:p.Ala264=
XM_017023783.1:c.384T>C	XP_016879272.1:p.Ala128=
NM_032520.5:c.744T>C MANE Select	NP_115909.1:p.Ala248=