Canonical Allele Identifier: CA345462323

Gene: EXO1

Linked Data

• MyVariant Identifiers: chr1:g.242052853T>G (hg19) ; chr1:g.241889551T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241889551T>G , CM000663.2:g.241889551T>G	GRCh38
NC_000001.10:g.242052853T>G , CM000663.1:g.242052853T>G	GRCh37
NC_000001.9:g.240119476T>G	NCBI36
NG_029100.1:g.46361T>G
NG_029100.2:g.46361T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366548.8:c.2492T>G MANE Select	ENSP00000355506.3:p.Ile831Arg
ENST00000348581.9:c.2492T>G	ENSP00000311873.5:p.Ile831Arg
ENST00000366548.7:c.2492T>G	ENSP00000355506.3:p.Ile831Arg
ENST00000518483.5:c.*78T>G	ENSP00000430251.1:n.*78T>G
ENST00000518741.1:n.152-2973T>G
ENST00000521202.2:c.585T>G
NM_003686.4:c.*78T>G	NP_003677.4:n.*78T>G
NM_006027.4:c.2492T>G	NP_006018.4:p.Ile831Arg
NM_130398.3:c.2492T>G	NP_569082.2:p.Ile831Arg
XM_005273350.2:c.2489T>G	XP_005273407.1:p.Ile830Arg
XM_006711840.1:c.2492T>G	XP_006711903.1:p.Ile831Arg
XM_011544321.1:c.2492T>G	XP_011542623.1:p.Ile831Arg
XM_011544322.1:c.2492T>G	XP_011542624.1:p.Ile831Arg
XM_011544323.1:c.2489T>G	XP_011542625.1:p.Ile830Arg
XM_011544324.1:c.2372T>G	XP_011542626.1:p.Ile791Arg
XM_011544325.1:c.1529T>G	XP_011542627.1:p.Ile510Arg
XR_949162.1:n.2990+4044T>G
NM_001319224.1:c.2489T>G	NP_001306153.1:p.Ile830Arg
XM_006711840.2:c.2492T>G	XP_006711903.1:p.Ile831Arg
XM_011544321.2:c.2492T>G	XP_011542623.1:p.Ile831Arg
XM_011544323.2:c.2489T>G	XP_011542625.1:p.Ile830Arg
XM_011544324.2:c.2372T>G	XP_011542626.1:p.Ile791Arg
XM_011544325.2:c.1529T>G	XP_011542627.1:p.Ile510Arg
XM_017002793.2:c.2372T>G	XP_016858282.1:p.Ile791Arg
NM_130398.4:c.2492T>G MANE Select	NP_569082.2:p.Ile831Arg
NM_001319224.2:c.2489T>G	NP_001306153.1:p.Ile830Arg