Canonical Allele Identifier: CA7807813

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 794360
• ClinVar RCV Id: RCV000977609
• dbSNP Id: rs541942383
• ExAC: 16:1412514 C / T
• gnomAD v2: 16-1412514-C-T
• gnomAD v3: 16-1362513-C-T
• gnomAD v4: 16-1362513-C-T
• COSMIC: COSM3690684
• MyVariant Identifiers: chr16:g.1412514C>T (hg19) ; chr16:g.1362513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362513C>T , CM000678.2:g.1362513C>T	GRCh38
NC_000016.9:g.1412514C>T , CM000678.1:g.1412514C>T	GRCh37
NC_000016.8:g.1352515C>T	NCBI36
NG_016985.1:g.15615C>T
NG_033129.1:g.57192G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.687C>T
ENST00000529110.2:c.672C>T	ENSP00000435349.2:p.Ala224=
ENST00000529957.6:n.646C>T
ENST00000683366.1:c.*320C>T	ENSP00000507283.1:n.*320C>T
ENST00000683887.1:c.636C>T	ENSP00000506886.1:p.Ala212=
ENST00000684100.1:n.582C>T
ENST00000684126.1:n.646C>T
ENST00000684688.1:n.1213C>T
ENST00000204679.9:c.588C>T MANE Select	ENSP00000204679.4:p.Ala196=
ENST00000204679.8:c.588C>T	ENSP00000204679.4:p.Ala196=
ENST00000527076.1:n.1735C>T
ENST00000527168.5:n.755C>T
ENST00000529957.5:n.687C>T
NM_032520.4:c.588C>T	NP_115909.1:p.Ala196=
XM_017023782.1:c.636C>T	XP_016879271.1:p.Ala212=
XM_017023783.1:c.228C>T	XP_016879272.1:p.Ala76=
NM_032520.5:c.588C>T MANE Select	NP_115909.1:p.Ala196=