Canonical Allele Identifier: CA1481543
Gene: EXO1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000366548.8:c.2167C>T MANE Select ENSP00000355506.3:p.Arg723Cys
ENST00000348581.9:c.2167C>T ENSP00000311873.5:p.Arg723Cys
ENST00000366548.7:c.2167C>T ENSP00000355506.3:p.Arg723Cys
ENST00000518483.5:c.2167C>T ENSP00000430251.1:p.Arg723Cys
ENST00000521202.2:c.304+2630C>T
NM_003686.4:c.2167C>T NP_003677.4:p.Arg723Cys
NM_006027.4:c.2167C>T NP_006018.4:p.Arg723Cys
NM_130398.3:c.2167C>T NP_569082.2:p.Arg723Cys
XM_005273350.2:c.2164C>T XP_005273407.1:p.Arg722Cys
XM_006711840.1:c.2167C>T XP_006711903.1:p.Arg723Cys
XM_011544321.1:c.2167C>T XP_011542623.1:p.Arg723Cys
XM_011544322.1:c.2167C>T XP_011542624.1:p.Arg723Cys
XM_011544323.1:c.2164C>T XP_011542625.1:p.Arg722Cys
XM_011544324.1:c.2047C>T XP_011542626.1:p.Arg683Cys
XM_011544325.1:c.1204C>T XP_011542627.1:p.Arg402Cys
XR_949162.1:n.2752C>T
NM_001319224.1:c.2164C>T NP_001306153.1:p.Arg722Cys
XM_006711840.2:c.2167C>T XP_006711903.1:p.Arg723Cys
XM_011544321.2:c.2167C>T XP_011542623.1:p.Arg723Cys
XM_011544323.2:c.2164C>T XP_011542625.1:p.Arg722Cys
XM_011544324.2:c.2047C>T XP_011542626.1:p.Arg683Cys
XM_011544325.2:c.1204C>T XP_011542627.1:p.Arg402Cys
XM_017002793.2:c.2047C>T XP_016858282.1:p.Arg683Cys
NM_130398.4:c.2167C>T MANE Select NP_569082.2:p.Arg723Cys
NM_001319224.2:c.2164C>T NP_001306153.1:p.Arg722Cys