Canonical Allele Identifier: CA15086119
Gene: EXO1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241889740A>G
GRCh37 chr1:g.242053042A>G
gnomAD v2:
1:242053042 A / G
gnomAD v3:
1:241889740 A / G
gnomAD v4:
chr1-241889740-A-G
Joint Max Group AF 0.81567328 (NFE)
Genomes Max Group AF 0.81131144 (NFE)
Exomes Max Group AF 0.81563785 (NFE)
dbSNP:
851797
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241889740A>G , CM000663.2:g.241889740A>G GRCh38
NC_000001.10:g.242053042A>G , CM000663.1:g.242053042A>G GRCh37
NC_000001.9:g.240119665A>G NCBI36
NG_029100.1:g.46550A>G
NG_029100.2:g.46550A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366548.8:c.*140A>G MANE Select ENSP00000355506.3:n.*140A>G
ENST00000348581.9:c.*140A>G ENSP00000311873.5:n.*140A>G
ENST00000366548.7:c.*140A>G ENSP00000355506.3:n.*140A>G
ENST00000518483.5:c.*267A>G ENSP00000430251.1:n.*267A>G
ENST00000518741.1:n.152-2784A>G
NM_003686.4:c.*267A>G NP_003677.4:n.*267A>G
NM_006027.4:c.*140A>G NP_006018.4:n.*140A>G
NM_130398.3:c.*140A>G NP_569082.2:n.*140A>G
XM_005273350.2:c.*140A>G XP_005273407.1:n.*140A>G
XM_006711840.1:c.*140A>G XP_006711903.1:n.*140A>G
XM_011544321.1:c.*140A>G XP_011542623.1:n.*140A>G
XM_011544322.1:c.*140A>G XP_011542624.1:n.*140A>G
XM_011544323.1:c.*140A>G XP_011542625.1:n.*140A>G
XM_011544324.1:c.*140A>G XP_011542626.1:n.*140A>G
XM_011544325.1:c.*140A>G XP_011542627.1:n.*140A>G
XR_949162.1:n.2990+4233A>G
NM_001319224.1:c.*140A>G NP_001306153.1:n.*140A>G
XM_006711840.2:c.*140A>G XP_006711903.1:n.*140A>G
XM_011544321.2:c.*140A>G XP_011542623.1:n.*140A>G
XM_011544323.2:c.*140A>G XP_011542625.1:n.*140A>G
XM_011544324.2:c.*140A>G XP_011542626.1:n.*140A>G
XM_011544325.2:c.*140A>G XP_011542627.1:n.*140A>G
XM_017002793.2:c.*140A>G XP_016858282.1:n.*140A>G
NM_130398.4:c.*140A>G MANE Select NP_569082.2:n.*140A>G
NM_001319224.2:c.*140A>G NP_001306153.1:n.*140A>G
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