Canonical Allele Identifier: CA345460043
Gene: EXO1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241878999G>C , CM000663.2:g.241878999G>C GRCh38
NC_000001.10:g.242042301G>C , CM000663.1:g.242042301G>C GRCh37
NC_000001.9:g.240108924G>C NCBI36
NG_029100.1:g.35809G>C
NG_029100.2:g.35809G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366548.8:c.1765G>C MANE Select ENSP00000355506.3:p.Glu589Gln
ENST00000348581.9:c.1765G>C ENSP00000311873.5:p.Glu589Gln
ENST00000366548.7:c.1765G>C ENSP00000355506.3:p.Glu589Gln
ENST00000518483.5:c.1765G>C ENSP00000430251.1:p.Glu589Gln
NM_003686.4:c.1765G>C NP_003677.4:p.Glu589Gln
NM_006027.4:c.1765G>C NP_006018.4:p.Glu589Gln
NM_130398.3:c.1765G>C NP_569082.2:p.Glu589Gln
XM_005273350.2:c.1762G>C XP_005273407.1:p.Glu588Gln
XM_006711840.1:c.1765G>C XP_006711903.1:p.Glu589Gln
XM_011544321.1:c.1765G>C XP_011542623.1:p.Glu589Gln
XM_011544322.1:c.1765G>C XP_011542624.1:p.Glu589Gln
XM_011544323.1:c.1762G>C XP_011542625.1:p.Glu588Gln
XM_011544324.1:c.1645G>C XP_011542626.1:p.Glu549Gln
XM_011544325.1:c.802G>C XP_011542627.1:p.Glu268Gln
XR_949162.1:n.2350G>C
NM_001319224.1:c.1762G>C NP_001306153.1:p.Glu588Gln
XM_006711840.2:c.1765G>C XP_006711903.1:p.Glu589Gln
XM_011544321.2:c.1765G>C XP_011542623.1:p.Glu589Gln
XM_011544323.2:c.1762G>C XP_011542625.1:p.Glu588Gln
XM_011544324.2:c.1645G>C XP_011542626.1:p.Glu549Gln
XM_011544325.2:c.802G>C XP_011542627.1:p.Glu268Gln
XM_017002793.2:c.1645G>C XP_016858282.1:p.Glu549Gln
NM_130398.4:c.1765G>C MANE Select NP_569082.2:p.Glu589Gln
NM_001319224.2:c.1762G>C NP_001306153.1:p.Glu588Gln