Canonical Allele Identifier: CA345462377

Gene: EXO1

Linked Data

• dbSNP Id: rs1486430220
• gnomAD v2: 1-242052876-C-T
• gnomAD v4: 1-241889574-C-T
• MyVariant Identifiers: chr1:g.242052876C>T (hg19) ; chr1:g.241889574C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241889574C>T , CM000663.2:g.241889574C>T	GRCh38
NC_000001.10:g.242052876C>T , CM000663.1:g.242052876C>T	GRCh37
NC_000001.9:g.240119499C>T	NCBI36
NG_029100.1:g.46384C>T
NG_029100.2:g.46384C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366548.8:c.2515C>T MANE Select	ENSP00000355506.3:p.Arg839Cys
ENST00000348581.9:c.2515C>T	ENSP00000311873.5:p.Arg839Cys
ENST00000366548.7:c.2515C>T	ENSP00000355506.3:p.Arg839Cys
ENST00000518483.5:c.*101C>T	ENSP00000430251.1:n.*101C>T
ENST00000518741.1:n.152-2950C>T
ENST00000521202.2:c.608C>T
NM_003686.4:c.*101C>T	NP_003677.4:n.*101C>T
NM_006027.4:c.2515C>T	NP_006018.4:p.Arg839Cys
NM_130398.3:c.2515C>T	NP_569082.2:p.Arg839Cys
XM_005273350.2:c.2512C>T	XP_005273407.1:p.Arg838Cys
XM_006711840.1:c.2515C>T	XP_006711903.1:p.Arg839Cys
XM_011544321.1:c.2515C>T	XP_011542623.1:p.Arg839Cys
XM_011544322.1:c.2515C>T	XP_011542624.1:p.Arg839Cys
XM_011544323.1:c.2512C>T	XP_011542625.1:p.Arg838Cys
XM_011544324.1:c.2395C>T	XP_011542626.1:p.Arg799Cys
XM_011544325.1:c.1552C>T	XP_011542627.1:p.Arg518Cys
XR_949162.1:n.2990+4067C>T
NM_001319224.1:c.2512C>T	NP_001306153.1:p.Arg838Cys
XM_006711840.2:c.2515C>T	XP_006711903.1:p.Arg839Cys
XM_011544321.2:c.2515C>T	XP_011542623.1:p.Arg839Cys
XM_011544323.2:c.2512C>T	XP_011542625.1:p.Arg838Cys
XM_011544324.2:c.2395C>T	XP_011542626.1:p.Arg799Cys
XM_011544325.2:c.1552C>T	XP_011542627.1:p.Arg518Cys
XM_017002793.2:c.2395C>T	XP_016858282.1:p.Arg799Cys
NM_130398.4:c.2515C>T MANE Select	NP_569082.2:p.Arg839Cys
NM_001319224.2:c.2512C>T	NP_001306153.1:p.Arg838Cys