Canonical Allele Identifier: CA376881684

Gene: STOX1

Linked Data

• gnomAD v4: 10-68885523-A-C
• MyVariant Identifiers: chr10:g.70645279A>C (hg19) ; chr10:g.68885523A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68885523A>C , CM000672.2:g.68885523A>C	GRCh38
NC_000010.10:g.70645279A>C , CM000672.1:g.70645279A>C	GRCh37
NC_000010.9:g.70315285A>C	NCBI36
NG_012975.1:g.62986A>C
NG_012975.2:g.62987A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298596.11:c.1727A>C MANE Select	ENSP00000298596.6:p.Asp576Ala
ENST00000642869.1:c.2063A>C	ENSP00000494558.1:p.Asp688Ala
ENST00000298596.10:c.1727A>C	ENSP00000298596.6:p.Asp576Ala
ENST00000399162.2:c.463+3413A>C	ENSP00000382115.2:n.463+3413A>C
ENST00000399165.8:c.663+1064A>C	ENSP00000382118.4:n.663+1064A>C
ENST00000399169.8:c.1727A>C	ENSP00000382121.4:p.Asp576Ala
NM_001130159.2:c.663+1064A>C	NP_001123631.1:n.663+1064A>C
NM_001130160.2:c.463+3413A>C	NP_001123632.1:n.463+3413A>C
NM_001130161.2:c.1727A>C	NP_001123633.1:p.Asp576Ala
NM_152709.4:c.1727A>C	NP_689922.3:p.Asp576Ala
XM_011539454.1:c.1397A>C	XP_011537756.1:p.Asp466Ala
XM_011539454.2:c.1397A>C	XP_011537756.1:p.Asp466Ala
NM_152709.5:c.1727A>C MANE Select	NP_689922.3:p.Asp576Ala
NM_001130161.3:c.1727A>C	NP_001123633.1:p.Asp576Ala
NM_001130159.3:c.663+1064A>C	NP_001123631.1:n.663+1064A>C
NM_001130160.3:c.463+3413A>C	NP_001123632.1:n.463+3413A>C
NM_001130161.4:c.1727A>C	NP_001123633.1:p.Asp576Ala