Canonical Allele Identifier: CA7807643

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 725459
• ClinVar RCV Id: RCV000899523 ; RCV001273755
• dbSNP Id: rs147048228
• ExAC: 16:1412060 C / A
• gnomAD v2: 16-1412060-C-A
• gnomAD v3: 16-1362059-C-A
• gnomAD v4: 16-1362059-C-A
• MyVariant Identifiers: chr16:g.1412060C>A (hg19) ; chr16:g.1362059C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362059C>A , CM000678.2:g.1362059C>A	GRCh38
NC_000016.9:g.1412060C>A , CM000678.1:g.1412060C>A	GRCh37
NC_000016.8:g.1352061C>A	NCBI36
NG_016985.1:g.15161C>A
NG_033129.1:g.57646G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.438C>A
ENST00000529110.2:c.423C>A	ENSP00000435349.2:p.Ile141=
ENST00000529957.6:n.397C>A
ENST00000683366.1:c.*71C>A	ENSP00000507283.1:n.*71C>A
ENST00000683887.1:c.387C>A	ENSP00000506886.1:p.Ile129=
ENST00000684100.1:n.333C>A
ENST00000684126.1:n.397C>A
ENST00000684688.1:n.964C>A
ENST00000204679.9:c.339C>A MANE Select	ENSP00000204679.4:p.Ile113=
ENST00000204679.8:c.339C>A	ENSP00000204679.4:p.Ile113=
ENST00000526820.5:c.*241C>A	ENSP00000434413.1:n.*241C>A
ENST00000527076.1:n.1355C>A
ENST00000527168.5:n.375C>A
ENST00000529110.1:c.406C>A
ENST00000529957.5:n.438C>A
NM_032520.4:c.339C>A	NP_115909.1:p.Ile113=
XM_017023782.1:c.387C>A	XP_016879271.1:p.Ile129=
XM_017023783.1:c.-22C>A	XP_016879272.1:n.-22C>A
NM_032520.5:c.339C>A MANE Select	NP_115909.1:p.Ile113=