Canonical Allele Identifier: CA5528204

Gene: STOX1

Linked Data

• dbSNP Id: rs748648803
• ExAC: 10:70645177 T / G
• gnomAD v2: 10-70645177-T-G
• gnomAD v4: 10-68885421-T-G
• MyVariant Identifiers: chr10:g.70645177T>G (hg19) ; chr10:g.68885421T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68885421T>G , CM000672.2:g.68885421T>G	GRCh38
NC_000010.10:g.70645177T>G , CM000672.1:g.70645177T>G	GRCh37
NC_000010.9:g.70315183T>G	NCBI36
NG_012975.1:g.62884T>G
NG_012975.2:g.62885T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298596.11:c.1625T>G MANE Select	ENSP00000298596.6:p.Ile542Ser
ENST00000642869.1:c.1961T>G	ENSP00000494558.1:p.Ile654Ser
ENST00000298596.10:c.1625T>G	ENSP00000298596.6:p.Ile542Ser
ENST00000399162.2:c.463+3311T>G	ENSP00000382115.2:n.463+3311T>G
ENST00000399165.8:c.663+962T>G	ENSP00000382118.4:n.663+962T>G
ENST00000399169.8:c.1625T>G	ENSP00000382121.4:p.Ile542Ser
NM_001130159.2:c.663+962T>G	NP_001123631.1:n.663+962T>G
NM_001130160.2:c.463+3311T>G	NP_001123632.1:n.463+3311T>G
NM_001130161.2:c.1625T>G	NP_001123633.1:p.Ile542Ser
NM_152709.4:c.1625T>G	NP_689922.3:p.Ile542Ser
XM_011539454.1:c.1295T>G	XP_011537756.1:p.Ile432Ser
XM_011539454.2:c.1295T>G	XP_011537756.1:p.Ile432Ser
NM_152709.5:c.1625T>G MANE Select	NP_689922.3:p.Ile542Ser
NM_001130161.3:c.1625T>G	NP_001123633.1:p.Ile542Ser
NM_001130159.3:c.663+962T>G	NP_001123631.1:n.663+962T>G
NM_001130160.3:c.463+3311T>G	NP_001123632.1:n.463+3311T>G
NM_001130161.4:c.1625T>G	NP_001123633.1:p.Ile542Ser