Canonical Allele Identifier: CA345462344

Gene: EXO1

Linked Data

• MyVariant Identifiers: chr1:g.242052862A>G (hg19) ; chr1:g.241889560A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241889560A>G , CM000663.2:g.241889560A>G	GRCh38
NC_000001.10:g.242052862A>G , CM000663.1:g.242052862A>G	GRCh37
NC_000001.9:g.240119485A>G	NCBI36
NG_029100.1:g.46370A>G
NG_029100.2:g.46370A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000366548.8:c.2501A>G MANE Select	ENSP00000355506.3:p.Lys834Arg
ENST00000348581.9:c.2501A>G	ENSP00000311873.5:p.Lys834Arg
ENST00000366548.7:c.2501A>G	ENSP00000355506.3:p.Lys834Arg
ENST00000518483.5:c.*87A>G	ENSP00000430251.1:n.*87A>G
ENST00000518741.1:n.152-2964A>G
ENST00000521202.2:c.594A>G
NM_003686.4:c.*87A>G	NP_003677.4:n.*87A>G
NM_006027.4:c.2501A>G	NP_006018.4:p.Lys834Arg
NM_130398.3:c.2501A>G	NP_569082.2:p.Lys834Arg
XM_005273350.2:c.2498A>G	XP_005273407.1:p.Lys833Arg
XM_006711840.1:c.2501A>G	XP_006711903.1:p.Lys834Arg
XM_011544321.1:c.2501A>G	XP_011542623.1:p.Lys834Arg
XM_011544322.1:c.2501A>G	XP_011542624.1:p.Lys834Arg
XM_011544323.1:c.2498A>G	XP_011542625.1:p.Lys833Arg
XM_011544324.1:c.2381A>G	XP_011542626.1:p.Lys794Arg
XM_011544325.1:c.1538A>G	XP_011542627.1:p.Lys513Arg
XR_949162.1:n.2990+4053A>G
NM_001319224.1:c.2498A>G	NP_001306153.1:p.Lys833Arg
XM_006711840.2:c.2501A>G	XP_006711903.1:p.Lys834Arg
XM_011544321.2:c.2501A>G	XP_011542623.1:p.Lys834Arg
XM_011544323.2:c.2498A>G	XP_011542625.1:p.Lys833Arg
XM_011544324.2:c.2381A>G	XP_011542626.1:p.Lys794Arg
XM_011544325.2:c.1538A>G	XP_011542627.1:p.Lys513Arg
XM_017002793.2:c.2381A>G	XP_016858282.1:p.Lys794Arg
NM_130398.4:c.2501A>G MANE Select	NP_569082.2:p.Lys834Arg
NM_001319224.2:c.2498A>G	NP_001306153.1:p.Lys833Arg