Canonical Allele Identifier: CA345462372

Gene: EXO1

Linked Data

• dbSNP Id: rs1257220726
• gnomAD v2: 1-242052873-G-T
• gnomAD v4: 1-241889571-G-T
• MyVariant Identifiers: chr1:g.242052873G>T (hg19) ; chr1:g.241889571G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241889571G>T , CM000663.2:g.241889571G>T	GRCh38
NC_000001.10:g.242052873G>T , CM000663.1:g.242052873G>T	GRCh37
NC_000001.9:g.240119496G>T	NCBI36
NG_029100.1:g.46381G>T
NG_029100.2:g.46381G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366548.8:c.2512G>T MANE Select	ENSP00000355506.3:p.Gly838Cys
ENST00000348581.9:c.2512G>T	ENSP00000311873.5:p.Gly838Cys
ENST00000366548.7:c.2512G>T	ENSP00000355506.3:p.Gly838Cys
ENST00000518483.5:c.*98G>T	ENSP00000430251.1:n.*98G>T
ENST00000518741.1:n.152-2953G>T
ENST00000521202.2:c.605G>T
NM_003686.4:c.*98G>T	NP_003677.4:n.*98G>T
NM_006027.4:c.2512G>T	NP_006018.4:p.Gly838Cys
NM_130398.3:c.2512G>T	NP_569082.2:p.Gly838Cys
XM_005273350.2:c.2509G>T	XP_005273407.1:p.Gly837Cys
XM_006711840.1:c.2512G>T	XP_006711903.1:p.Gly838Cys
XM_011544321.1:c.2512G>T	XP_011542623.1:p.Gly838Cys
XM_011544322.1:c.2512G>T	XP_011542624.1:p.Gly838Cys
XM_011544323.1:c.2509G>T	XP_011542625.1:p.Gly837Cys
XM_011544324.1:c.2392G>T	XP_011542626.1:p.Gly798Cys
XM_011544325.1:c.1549G>T	XP_011542627.1:p.Gly517Cys
XR_949162.1:n.2990+4064G>T
NM_001319224.1:c.2509G>T	NP_001306153.1:p.Gly837Cys
XM_006711840.2:c.2512G>T	XP_006711903.1:p.Gly838Cys
XM_011544321.2:c.2512G>T	XP_011542623.1:p.Gly838Cys
XM_011544323.2:c.2509G>T	XP_011542625.1:p.Gly837Cys
XM_011544324.2:c.2392G>T	XP_011542626.1:p.Gly798Cys
XM_011544325.2:c.1549G>T	XP_011542627.1:p.Gly517Cys
XM_017002793.2:c.2392G>T	XP_016858282.1:p.Gly798Cys
NM_130398.4:c.2512G>T MANE Select	NP_569082.2:p.Gly838Cys
NM_001319224.2:c.2509G>T	NP_001306153.1:p.Gly837Cys