Canonical Allele Identifier: CA394187610

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1027011
• ClinVar RCV Id: RCV001327549 ; RCV001831033
• dbSNP Id: rs2034904624
• MyVariant Identifiers: chr16:g.1412216G>A (hg19) ; chr16:g.1362215G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362215G>A , CM000678.2:g.1362215G>A	GRCh38
NC_000016.9:g.1412216G>A , CM000678.1:g.1412216G>A	GRCh37
NC_000016.8:g.1352217G>A	NCBI36
NG_016985.1:g.15317G>A
NG_033129.1:g.57490C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.520G>A
ENST00000529110.2:c.505G>A	ENSP00000435349.2:p.Ala169Thr
ENST00000529957.6:n.479G>A
ENST00000683366.1:c.*153G>A	ENSP00000507283.1:n.*153G>A
ENST00000683887.1:c.469G>A	ENSP00000506886.1:p.Ala157Thr
ENST00000684100.1:n.415G>A
ENST00000684126.1:n.479G>A
ENST00000684688.1:n.1046G>A
ENST00000204679.9:c.421G>A MANE Select	ENSP00000204679.4:p.Ala141Thr
ENST00000204679.8:c.421G>A	ENSP00000204679.4:p.Ala141Thr
ENST00000527076.1:n.1437G>A
ENST00000527168.5:n.457G>A
ENST00000529110.1:c.488G>A
ENST00000529957.5:n.520G>A
NM_032520.4:c.421G>A	NP_115909.1:p.Ala141Thr
XM_017023782.1:c.469G>A	XP_016879271.1:p.Ala157Thr
XM_017023783.1:c.61G>A	XP_016879272.1:p.Ala21Thr
NM_032520.5:c.421G>A MANE Select	NP_115909.1:p.Ala141Thr