Canonical Allele Identifier: CA493026517

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362256-G-C
• MyVariant Identifiers: chr16:g.1412257G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362256G>C , CM000678.2:g.1362256G>C	GRCh38
NC_000016.9:g.1412257G>C , CM000678.1:g.1412257G>C	GRCh37
NC_000016.8:g.1352258G>C	NCBI36
NG_016985.1:g.15358G>C
NG_033129.1:g.57449C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.561G>C
ENST00000529110.2:c.546G>C	ENSP00000435349.2:p.Pro182=
ENST00000529957.6:n.520G>C
ENST00000683366.1:c.*194G>C	ENSP00000507283.1:n.*194G>C
ENST00000683887.1:c.510G>C	ENSP00000506886.1:p.Pro170=
ENST00000684100.1:n.456G>C
ENST00000684126.1:n.520G>C
ENST00000684688.1:n.1087G>C
ENST00000204679.9:c.462G>C MANE Select	ENSP00000204679.4:p.Pro154=
ENST00000204679.8:c.462G>C	ENSP00000204679.4:p.Pro154=
ENST00000527076.1:n.1478G>C
ENST00000527168.5:n.498G>C
ENST00000529110.1:c.529G>C
ENST00000529957.5:n.561G>C
NM_032520.4:c.462G>C	NP_115909.1:p.Pro154=
XM_017023782.1:c.510G>C	XP_016879271.1:p.Pro170=
XM_017023783.1:c.102G>C	XP_016879272.1:p.Pro34=
NM_032520.5:c.462G>C MANE Select	NP_115909.1:p.Pro154=