Canonical Allele Identifier: CA394188826

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1061213
• ClinVar RCV Id: RCV001370754 ; RCV001826093
• dbSNP Id: rs1391028440
• gnomAD v3: 16-1362906-G-C
• gnomAD v4: 16-1362906-G-C
• MyVariant Identifiers: chr16:g.1412907G>C (hg19) ; chr16:g.1362906G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362906G>C , CM000678.2:g.1362906G>C	GRCh38
NC_000016.9:g.1412907G>C , CM000678.1:g.1412907G>C	GRCh37
NC_000016.8:g.1352908G>C	NCBI36
NG_016985.1:g.16008G>C
NG_033129.1:g.56799C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.922G>C
ENST00000529110.2:c.907G>C	ENSP00000435349.2:p.Glu303Gln
ENST00000529957.6:n.881G>C
ENST00000683366.1:c.*555G>C	ENSP00000507283.1:n.*555G>C
ENST00000683887.1:c.871G>C	ENSP00000506886.1:p.Glu291Gln
ENST00000684100.1:n.817G>C
ENST00000684126.1:n.957G>C
ENST00000684688.1:n.1448G>C
ENST00000204679.9:c.823G>C MANE Select	ENSP00000204679.4:p.Glu275Gln
ENST00000204679.8:c.823G>C	ENSP00000204679.4:p.Glu275Gln
ENST00000527076.1:n.2046G>C
ENST00000527168.5:n.990G>C
ENST00000529957.5:n.922G>C
NM_032520.4:c.823G>C	NP_115909.1:p.Glu275Gln
XM_017023782.1:c.871G>C	XP_016879271.1:p.Glu291Gln
XM_017023783.1:c.463G>C	XP_016879272.1:p.Glu155Gln
NM_032520.5:c.823G>C MANE Select	NP_115909.1:p.Glu275Gln