Canonical Allele Identifier: CA345462348

Gene: EXO1

Linked Data

• MyVariant Identifiers: chr1:g.242052864C>A (hg19) ; chr1:g.241889562C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241889562C>A , CM000663.2:g.241889562C>A	GRCh38
NC_000001.10:g.242052864C>A , CM000663.1:g.242052864C>A	GRCh37
NC_000001.9:g.240119487C>A	NCBI36
NG_029100.1:g.46372C>A
NG_029100.2:g.46372C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366548.8:c.2503C>A MANE Select	ENSP00000355506.3:p.Pro835Thr
ENST00000348581.9:c.2503C>A	ENSP00000311873.5:p.Pro835Thr
ENST00000366548.7:c.2503C>A	ENSP00000355506.3:p.Pro835Thr
ENST00000518483.5:c.*89C>A	ENSP00000430251.1:n.*89C>A
ENST00000518741.1:n.152-2962C>A
ENST00000521202.2:c.596C>A
NM_003686.4:c.*89C>A	NP_003677.4:n.*89C>A
NM_006027.4:c.2503C>A	NP_006018.4:p.Pro835Thr
NM_130398.3:c.2503C>A	NP_569082.2:p.Pro835Thr
XM_005273350.2:c.2500C>A	XP_005273407.1:p.Pro834Thr
XM_006711840.1:c.2503C>A	XP_006711903.1:p.Pro835Thr
XM_011544321.1:c.2503C>A	XP_011542623.1:p.Pro835Thr
XM_011544322.1:c.2503C>A	XP_011542624.1:p.Pro835Thr
XM_011544323.1:c.2500C>A	XP_011542625.1:p.Pro834Thr
XM_011544324.1:c.2383C>A	XP_011542626.1:p.Pro795Thr
XM_011544325.1:c.1540C>A	XP_011542627.1:p.Pro514Thr
XR_949162.1:n.2990+4055C>A
NM_001319224.1:c.2500C>A	NP_001306153.1:p.Pro834Thr
XM_006711840.2:c.2503C>A	XP_006711903.1:p.Pro835Thr
XM_011544321.2:c.2503C>A	XP_011542623.1:p.Pro835Thr
XM_011544323.2:c.2500C>A	XP_011542625.1:p.Pro834Thr
XM_011544324.2:c.2383C>A	XP_011542626.1:p.Pro795Thr
XM_011544325.2:c.1540C>A	XP_011542627.1:p.Pro514Thr
XM_017002793.2:c.2383C>A	XP_016858282.1:p.Pro795Thr
NM_130398.4:c.2503C>A MANE Select	NP_569082.2:p.Pro835Thr
NM_001319224.2:c.2500C>A	NP_001306153.1:p.Pro834Thr