Canonical Allele Identifier: CA2748377845

Gene: EXO1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241889878G>T , CM000663.2:g.241889878G>T	GRCh38
NC_000001.10:g.242053180G>T , CM000663.1:g.242053180G>T	GRCh37
NC_000001.9:g.240119803G>T	NCBI36
NG_029100.1:g.46688G>T
NG_029100.2:g.46688G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366548.8:c.*278G>T MANE Select	ENSP00000355506.3:n.*278G>T
ENST00000348581.9:c.*278G>T	ENSP00000311873.5:n.*278G>T
ENST00000366548.7:c.*278G>T	ENSP00000355506.3:n.*278G>T
ENST00000518741.1:n.152-2646G>T
NM_003686.4:c.*405G>T	NP_003677.4:n.*405G>T
NM_006027.4:c.*278G>T	NP_006018.4:n.*278G>T
NM_130398.3:c.*278G>T	NP_569082.2:n.*278G>T
XM_011544321.1:c.*278G>T	XP_011542623.1:n.*278G>T
XM_011544322.1:c.*278G>T	XP_011542624.1:n.*278G>T
XR_949162.1:n.2990+4371G>T
NM_001319224.1:c.*278G>T	NP_001306153.1:n.*278G>T
XM_006711840.2:c.*278G>T	XP_006711903.1:n.*278G>T
XM_011544321.2:c.*278G>T	XP_011542623.1:n.*278G>T
XM_011544323.2:c.*278G>T	XP_011542625.1:n.*278G>T
XM_011544324.2:c.*278G>T	XP_011542626.1:n.*278G>T
XM_011544325.2:c.*278G>T	XP_011542627.1:n.*278G>T
XM_017002793.2:c.*278G>T	XP_016858282.1:n.*278G>T
NM_130398.4:c.*278G>T MANE Select	NP_569082.2:n.*278G>T
NM_001319224.2:c.*278G>T	NP_001306153.1:n.*278G>T