Canonical Allele Identifier: CA1481437
Gene: EXO1 HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000366548.8:c.1765G>A MANE Select ENSP00000355506.3:p.Glu589Lys
ENST00000348581.9:c.1765G>A ENSP00000311873.5:p.Glu589Lys
ENST00000366548.7:c.1765G>A ENSP00000355506.3:p.Glu589Lys
ENST00000518483.5:c.1765G>A ENSP00000430251.1:p.Glu589Lys
NM_003686.4:c.1765G>A NP_003677.4:p.Glu589Lys
NM_006027.4:c.1765G>A NP_006018.4:p.Glu589Lys
NM_130398.3:c.1765G>A NP_569082.2:p.Glu589Lys
XM_005273350.2:c.1762G>A XP_005273407.1:p.Glu588Lys
XM_006711840.1:c.1765G>A XP_006711903.1:p.Glu589Lys
XM_011544321.1:c.1765G>A XP_011542623.1:p.Glu589Lys
XM_011544322.1:c.1765G>A XP_011542624.1:p.Glu589Lys
XM_011544323.1:c.1762G>A XP_011542625.1:p.Glu588Lys
XM_011544324.1:c.1645G>A XP_011542626.1:p.Glu549Lys
XM_011544325.1:c.802G>A XP_011542627.1:p.Glu268Lys
XR_949162.1:n.2350G>A
NM_001319224.1:c.1762G>A NP_001306153.1:p.Glu588Lys
XM_006711840.2:c.1765G>A XP_006711903.1:p.Glu589Lys
XM_011544321.2:c.1765G>A XP_011542623.1:p.Glu589Lys
XM_011544323.2:c.1762G>A XP_011542625.1:p.Glu588Lys
XM_011544324.2:c.1645G>A XP_011542626.1:p.Glu549Lys
XM_011544325.2:c.802G>A XP_011542627.1:p.Glu268Lys
XM_017002793.2:c.1645G>A XP_016858282.1:p.Glu549Lys
NM_130398.4:c.1765G>A MANE Select NP_569082.2:p.Glu589Lys
NM_001319224.2:c.1762G>A NP_001306153.1:p.Glu588Lys