Canonical Allele Identifier: CA7807818

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 737791
• ClinVar RCV Id: RCV000913597
• dbSNP Id: rs112266724
• ExAC: 16:1412523 G / T
• gnomAD v2: 16-1412523-G-T
• gnomAD v3: 16-1362522-G-T
• gnomAD v4: 16-1362522-G-T
• MyVariant Identifiers: chr16:g.1412523G>T (hg19) ; chr16:g.1362522G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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