Canonical Allele Identifier: CA394186853

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411899A>C (hg19) ; chr16:g.1361898A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361898A>C , CM000678.2:g.1361898A>C	GRCh38
NC_000016.9:g.1411899A>C , CM000678.1:g.1411899A>C	GRCh37
NC_000016.8:g.1351900A>C	NCBI36
NG_016985.1:g.15000A>C
NG_033129.1:g.57807T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.359A>C
ENST00000529110.2:c.344A>C	ENSP00000435349.2:p.His115Pro
ENST00000529957.6:n.318A>C
ENST00000683366.1:c.205A>C	ENSP00000507283.1:p.Thr69Pro
ENST00000683887.1:c.308A>C	ENSP00000506886.1:p.His103Pro
ENST00000684100.1:n.254A>C
ENST00000684126.1:n.318A>C
ENST00000684688.1:n.885A>C
ENST00000204679.9:c.260A>C MANE Select	ENSP00000204679.4:p.His87Pro
ENST00000204679.8:c.260A>C	ENSP00000204679.4:p.His87Pro
ENST00000526820.5:c.*162A>C	ENSP00000434413.1:n.*162A>C
ENST00000527076.1:n.1276A>C
ENST00000527168.5:n.296A>C
ENST00000529110.1:c.327A>C
ENST00000529957.5:n.359A>C
NM_032520.4:c.260A>C	NP_115909.1:p.His87Pro
XM_017023782.1:c.308A>C	XP_016879271.1:p.His103Pro
XM_017023783.1:c.-101A>C	XP_016879272.1:n.-101A>C
NM_032520.5:c.260A>C MANE Select	NP_115909.1:p.His87Pro