Canonical Allele Identifier: CA376881939

Gene: STOX1

Linked Data

• gnomAD v4: 10-68885633-G-C
• MyVariant Identifiers: chr10:g.70645389G>C (hg19) ; chr10:g.68885633G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68885633G>C , CM000672.2:g.68885633G>C	GRCh38
NC_000010.10:g.70645389G>C , CM000672.1:g.70645389G>C	GRCh37
NC_000010.9:g.70315395G>C	NCBI36
NG_012975.1:g.63096G>C
NG_012975.2:g.63097G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298596.11:c.1837G>C MANE Select	ENSP00000298596.6:p.Glu613Gln
ENST00000642869.1:c.2173G>C	ENSP00000494558.1:p.Glu725Gln
ENST00000298596.10:c.1837G>C	ENSP00000298596.6:p.Glu613Gln
ENST00000399162.2:c.463+3523G>C	ENSP00000382115.2:n.463+3523G>C
ENST00000399165.8:c.663+1174G>C	ENSP00000382118.4:n.663+1174G>C
ENST00000399169.8:c.1837G>C	ENSP00000382121.4:p.Glu613Gln
NM_001130159.2:c.663+1174G>C	NP_001123631.1:n.663+1174G>C
NM_001130160.2:c.463+3523G>C	NP_001123632.1:n.463+3523G>C
NM_001130161.2:c.1837G>C	NP_001123633.1:p.Glu613Gln
NM_152709.4:c.1837G>C	NP_689922.3:p.Glu613Gln
XM_011539454.1:c.1507G>C	XP_011537756.1:p.Glu503Gln
XM_011539454.2:c.1507G>C	XP_011537756.1:p.Glu503Gln
NM_152709.5:c.1837G>C MANE Select	NP_689922.3:p.Glu613Gln
NM_001130161.3:c.1837G>C	NP_001123633.1:p.Glu613Gln
NM_001130159.3:c.663+1174G>C	NP_001123631.1:n.663+1174G>C
NM_001130160.3:c.463+3523G>C	NP_001123632.1:n.463+3523G>C
NM_001130161.4:c.1837G>C	NP_001123633.1:p.Glu613Gln