Canonical Allele Identifier: CA394187222

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412057G>C (hg19) ; chr16:g.1362056G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362056G>C , CM000678.2:g.1362056G>C	GRCh38
NC_000016.9:g.1412057G>C , CM000678.1:g.1412057G>C	GRCh37
NC_000016.8:g.1352058G>C	NCBI36
NG_016985.1:g.15158G>C
NG_033129.1:g.57649C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.435G>C
ENST00000529110.2:c.420G>C	ENSP00000435349.2:p.Glu140Asp
ENST00000529957.6:n.394G>C
ENST00000683366.1:c.*68G>C	ENSP00000507283.1:n.*68G>C
ENST00000683887.1:c.384G>C	ENSP00000506886.1:p.Glu128Asp
ENST00000684100.1:n.330G>C
ENST00000684126.1:n.394G>C
ENST00000684688.1:n.961G>C
ENST00000204679.9:c.336G>C MANE Select	ENSP00000204679.4:p.Glu112Asp
ENST00000204679.8:c.336G>C	ENSP00000204679.4:p.Glu112Asp
ENST00000526820.5:c.*238G>C	ENSP00000434413.1:n.*238G>C
ENST00000527076.1:n.1352G>C
ENST00000527168.5:n.372G>C
ENST00000529110.1:c.403G>C
ENST00000529957.5:n.435G>C
NM_032520.4:c.336G>C	NP_115909.1:p.Glu112Asp
XM_017023782.1:c.384G>C	XP_016879271.1:p.Glu128Asp
XM_017023783.1:c.-25G>C	XP_016879272.1:n.-25G>C
NM_032520.5:c.336G>C MANE Select	NP_115909.1:p.Glu112Asp