Canonical Allele Identifier: CA276658334

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1156444
• ClinVar RCV Id: RCV001499096
• dbSNP Id: rs112266724
• gnomAD v4: 16-1362522-G-A
• MyVariant Identifiers: chr16:g.1412523G>A (hg19) ; chr16:g.1362522G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362522G>A , CM000678.2:g.1362522G>A	GRCh38
NC_000016.9:g.1412523G>A , CM000678.1:g.1412523G>A	GRCh37
NC_000016.8:g.1352524G>A	NCBI36
NG_016985.1:g.15624G>A
NG_033129.1:g.57183C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.696G>A
ENST00000529110.2:c.681G>A	ENSP00000435349.2:p.Leu227=
ENST00000529957.6:n.655G>A
ENST00000683366.1:c.*329G>A	ENSP00000507283.1:n.*329G>A
ENST00000683887.1:c.645G>A	ENSP00000506886.1:p.Leu215=
ENST00000684100.1:n.591G>A
ENST00000684126.1:n.655G>A
ENST00000684688.1:n.1222G>A
ENST00000204679.9:c.597G>A MANE Select	ENSP00000204679.4:p.Leu199=
ENST00000204679.8:c.597G>A	ENSP00000204679.4:p.Leu199=
ENST00000527076.1:n.1744G>A
ENST00000527168.5:n.764G>A
ENST00000529957.5:n.696G>A
NM_032520.4:c.597G>A	NP_115909.1:p.Leu199=
XM_017023782.1:c.645G>A	XP_016879271.1:p.Leu215=
XM_017023783.1:c.237G>A	XP_016879272.1:p.Leu79=
NM_032520.5:c.597G>A MANE Select	NP_115909.1:p.Leu199=