Canonical Allele Identifier: CA394187662

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412226A>C (hg19) ; chr16:g.1362225A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362225A>C , CM000678.2:g.1362225A>C	GRCh38
NC_000016.9:g.1412226A>C , CM000678.1:g.1412226A>C	GRCh37
NC_000016.8:g.1352227A>C	NCBI36
NG_016985.1:g.15327A>C
NG_033129.1:g.57480T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.530A>C
ENST00000529110.2:c.515A>C	ENSP00000435349.2:p.Lys172Thr
ENST00000529957.6:n.489A>C
ENST00000683366.1:c.*163A>C	ENSP00000507283.1:n.*163A>C
ENST00000683887.1:c.479A>C	ENSP00000506886.1:p.Lys160Thr
ENST00000684100.1:n.425A>C
ENST00000684126.1:n.489A>C
ENST00000684688.1:n.1056A>C
ENST00000204679.9:c.431A>C MANE Select	ENSP00000204679.4:p.Lys144Thr
ENST00000204679.8:c.431A>C	ENSP00000204679.4:p.Lys144Thr
ENST00000527076.1:n.1447A>C
ENST00000527168.5:n.467A>C
ENST00000529110.1:c.498A>C
ENST00000529957.5:n.530A>C
NM_032520.4:c.431A>C	NP_115909.1:p.Lys144Thr
XM_017023782.1:c.479A>C	XP_016879271.1:p.Lys160Thr
XM_017023783.1:c.71A>C	XP_016879272.1:p.Lys24Thr
NM_032520.5:c.431A>C MANE Select	NP_115909.1:p.Lys144Thr