Canonical Allele Identifier: CA394187003

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411937G>C (hg19) ; chr16:g.1361936G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361936G>C , CM000678.2:g.1361936G>C	GRCh38
NC_000016.9:g.1411937G>C , CM000678.1:g.1411937G>C	GRCh37
NC_000016.8:g.1351938G>C	NCBI36
NG_016985.1:g.15038G>C
NG_033129.1:g.57769C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.397G>C
ENST00000529110.2:c.382G>C	ENSP00000435349.2:p.Ala128Pro
ENST00000529957.6:n.356G>C
ENST00000683366.1:c.*30G>C	ENSP00000507283.1:n.*30G>C
ENST00000683887.1:c.346G>C	ENSP00000506886.1:p.Ala116Pro
ENST00000684100.1:n.292G>C
ENST00000684126.1:n.356G>C
ENST00000684688.1:n.923G>C
ENST00000204679.9:c.298G>C MANE Select	ENSP00000204679.4:p.Ala100Pro
ENST00000204679.8:c.298G>C	ENSP00000204679.4:p.Ala100Pro
ENST00000526820.5:c.*200G>C	ENSP00000434413.1:n.*200G>C
ENST00000527076.1:n.1314G>C
ENST00000527168.5:n.334G>C
ENST00000529110.1:c.365G>C
ENST00000529957.5:n.397G>C
NM_032520.4:c.298G>C	NP_115909.1:p.Ala100Pro
XM_017023782.1:c.346G>C	XP_016879271.1:p.Ala116Pro
XM_017023783.1:c.-63G>C	XP_016879272.1:n.-63G>C
NM_032520.5:c.298G>C MANE Select	NP_115909.1:p.Ala100Pro