Canonical Allele Identifier: CA394186888

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411907A>C (hg19) ; chr16:g.1361906A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361906A>C , CM000678.2:g.1361906A>C	GRCh38
NC_000016.9:g.1411907A>C , CM000678.1:g.1411907A>C	GRCh37
NC_000016.8:g.1351908A>C	NCBI36
NG_016985.1:g.15008A>C
NG_033129.1:g.57799T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.367A>C
ENST00000529110.2:c.352A>C	ENSP00000435349.2:p.Thr118Pro
ENST00000529957.6:n.326A>C
ENST00000683366.1:c.213A>C	ENSP00000507283.1:p.Ter71Cys
ENST00000683887.1:c.316A>C	ENSP00000506886.1:p.Thr106Pro
ENST00000684100.1:n.262A>C
ENST00000684126.1:n.326A>C
ENST00000684688.1:n.893A>C
ENST00000204679.9:c.268A>C MANE Select	ENSP00000204679.4:p.Thr90Pro
ENST00000204679.8:c.268A>C	ENSP00000204679.4:p.Thr90Pro
ENST00000526820.5:c.*170A>C	ENSP00000434413.1:n.*170A>C
ENST00000527076.1:n.1284A>C
ENST00000527168.5:n.304A>C
ENST00000529110.1:c.335A>C
ENST00000529957.5:n.367A>C
NM_032520.4:c.268A>C	NP_115909.1:p.Thr90Pro
XM_017023782.1:c.316A>C	XP_016879271.1:p.Thr106Pro
XM_017023783.1:c.-93A>C	XP_016879272.1:n.-93A>C
NM_032520.5:c.268A>C MANE Select	NP_115909.1:p.Thr90Pro