Canonical Allele Identifier: CA394187818

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412262C>A (hg19) ; chr16:g.1362261C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362261C>A , CM000678.2:g.1362261C>A	GRCh38
NC_000016.9:g.1412262C>A , CM000678.1:g.1412262C>A	GRCh37
NC_000016.8:g.1352263C>A	NCBI36
NG_016985.1:g.15363C>A
NG_033129.1:g.57444G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.566C>A
ENST00000529110.2:c.551C>A	ENSP00000435349.2:p.Thr184Asn
ENST00000529957.6:n.525C>A
ENST00000683366.1:c.*199C>A	ENSP00000507283.1:n.*199C>A
ENST00000683887.1:c.515C>A	ENSP00000506886.1:p.Thr172Asn
ENST00000684100.1:n.461C>A
ENST00000684126.1:n.525C>A
ENST00000684688.1:n.1092C>A
ENST00000204679.9:c.467C>A MANE Select	ENSP00000204679.4:p.Thr156Asn
ENST00000204679.8:c.467C>A	ENSP00000204679.4:p.Thr156Asn
ENST00000527076.1:n.1483C>A
ENST00000527168.5:n.503C>A
ENST00000529110.1:c.534C>A
ENST00000529957.5:n.566C>A
NM_032520.4:c.467C>A	NP_115909.1:p.Thr156Asn
XM_017023782.1:c.515C>A	XP_016879271.1:p.Thr172Asn
XM_017023783.1:c.107C>A	XP_016879272.1:p.Thr36Asn
NM_032520.5:c.467C>A MANE Select	NP_115909.1:p.Thr156Asn