Canonical Allele Identifier: CA345461313
Gene: EXO1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241881973C>G , CM000663.2:g.241881973C>G GRCh38
NC_000001.10:g.242045275C>G , CM000663.1:g.242045275C>G GRCh37
NC_000001.9:g.240111898C>G NCBI36
NG_029100.1:g.38783C>G
NG_029100.2:g.38783C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366548.8:c.2167C>G MANE Select ENSP00000355506.3:p.Arg723Gly
ENST00000348581.9:c.2167C>G ENSP00000311873.5:p.Arg723Gly
ENST00000366548.7:c.2167C>G ENSP00000355506.3:p.Arg723Gly
ENST00000518483.5:c.2167C>G ENSP00000430251.1:p.Arg723Gly
ENST00000521202.2:c.304+2630C>G
NM_003686.4:c.2167C>G NP_003677.4:p.Arg723Gly
NM_006027.4:c.2167C>G NP_006018.4:p.Arg723Gly
NM_130398.3:c.2167C>G NP_569082.2:p.Arg723Gly
XM_005273350.2:c.2164C>G XP_005273407.1:p.Arg722Gly
XM_006711840.1:c.2167C>G XP_006711903.1:p.Arg723Gly
XM_011544321.1:c.2167C>G XP_011542623.1:p.Arg723Gly
XM_011544322.1:c.2167C>G XP_011542624.1:p.Arg723Gly
XM_011544323.1:c.2164C>G XP_011542625.1:p.Arg722Gly
XM_011544324.1:c.2047C>G XP_011542626.1:p.Arg683Gly
XM_011544325.1:c.1204C>G XP_011542627.1:p.Arg402Gly
XR_949162.1:n.2752C>G
NM_001319224.1:c.2164C>G NP_001306153.1:p.Arg722Gly
XM_006711840.2:c.2167C>G XP_006711903.1:p.Arg723Gly
XM_011544321.2:c.2167C>G XP_011542623.1:p.Arg723Gly
XM_011544323.2:c.2164C>G XP_011542625.1:p.Arg722Gly
XM_011544324.2:c.2047C>G XP_011542626.1:p.Arg683Gly
XM_011544325.2:c.1204C>G XP_011542627.1:p.Arg402Gly
XM_017002793.2:c.2047C>G XP_016858282.1:p.Arg683Gly
NM_130398.4:c.2167C>G MANE Select NP_569082.2:p.Arg723Gly
NM_001319224.2:c.2164C>G NP_001306153.1:p.Arg722Gly