Canonical Allele Identifier: CA376881971

Gene: STOX1

Linked Data

• gnomAD v4: 10-68885646-T-C
• MyVariant Identifiers: chr10:g.70645402T>C (hg19) ; chr10:g.68885646T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68885646T>C , CM000672.2:g.68885646T>C	GRCh38
NC_000010.10:g.70645402T>C , CM000672.1:g.70645402T>C	GRCh37
NC_000010.9:g.70315408T>C	NCBI36
NG_012975.1:g.63109T>C
NG_012975.2:g.63110T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298596.11:c.1850T>C MANE Select	ENSP00000298596.6:p.Ile617Thr
ENST00000642869.1:c.2186T>C	ENSP00000494558.1:p.Ile729Thr
ENST00000298596.10:c.1850T>C	ENSP00000298596.6:p.Ile617Thr
ENST00000399162.2:c.463+3536T>C	ENSP00000382115.2:n.463+3536T>C
ENST00000399165.8:c.663+1187T>C	ENSP00000382118.4:n.663+1187T>C
ENST00000399169.8:c.1850T>C	ENSP00000382121.4:p.Ile617Thr
NM_001130159.2:c.663+1187T>C	NP_001123631.1:n.663+1187T>C
NM_001130160.2:c.463+3536T>C	NP_001123632.1:n.463+3536T>C
NM_001130161.2:c.1850T>C	NP_001123633.1:p.Ile617Thr
NM_152709.4:c.1850T>C	NP_689922.3:p.Ile617Thr
XM_011539454.1:c.1520T>C	XP_011537756.1:p.Ile507Thr
XM_011539454.2:c.1520T>C	XP_011537756.1:p.Ile507Thr
NM_152709.5:c.1850T>C MANE Select	NP_689922.3:p.Ile617Thr
NM_001130161.3:c.1850T>C	NP_001123633.1:p.Ile617Thr
NM_001130159.3:c.663+1187T>C	NP_001123631.1:n.663+1187T>C
NM_001130160.3:c.463+3536T>C	NP_001123632.1:n.463+3536T>C
NM_001130161.4:c.1850T>C	NP_001123633.1:p.Ile617Thr