Canonical Allele Identifier: CA345450494

Gene: EXO1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241858704C>T , CM000663.2:g.241858704C>T	GRCh38
NC_000001.10:g.242022006C>T , CM000663.1:g.242022006C>T	GRCh37
NC_000001.9:g.240088629C>T	NCBI36
NG_029100.1:g.15514C>T
NG_029100.2:g.15514C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366548.8:c.742C>T MANE Select	ENSP00000355506.3:p.Pro248Ser
ENST00000348581.9:c.742C>T	ENSP00000311873.5:p.Pro248Ser
ENST00000366548.7:c.742C>T	ENSP00000355506.3:p.Pro248Ser
ENST00000469419.1:n.552C>T
ENST00000493702.5:n.769C>T
ENST00000518483.5:c.742C>T	ENSP00000430251.1:p.Pro248Ser
NM_003686.4:c.742C>T	NP_003677.4:p.Pro248Ser
NM_006027.4:c.742C>T	NP_006018.4:p.Pro248Ser
NM_130398.3:c.742C>T	NP_569082.2:p.Pro248Ser
XM_005273350.2:c.742C>T	XP_005273407.1:p.Pro248Ser
XM_006711840.1:c.742C>T	XP_006711903.1:p.Pro248Ser
XM_011544321.1:c.742C>T	XP_011542623.1:p.Pro248Ser
XM_011544322.1:c.742C>T	XP_011542624.1:p.Pro248Ser
XM_011544323.1:c.742C>T	XP_011542625.1:p.Pro248Ser
XM_011544324.1:c.622C>T	XP_011542626.1:p.Pro208Ser
XM_011544326.1:c.742C>T	XP_011542628.1:p.Pro248Ser
XM_011544327.1:c.742C>T	XP_011542629.1:p.Pro248Ser
XR_949162.1:n.1327C>T
NM_001319224.1:c.742C>T	NP_001306153.1:p.Pro248Ser
XM_006711840.2:c.742C>T	XP_006711903.1:p.Pro248Ser
XM_011544321.2:c.742C>T	XP_011542623.1:p.Pro248Ser
XM_011544323.2:c.742C>T	XP_011542625.1:p.Pro248Ser
XM_011544324.2:c.622C>T	XP_011542626.1:p.Pro208Ser
XM_017002793.2:c.622C>T	XP_016858282.1:p.Pro208Ser
NM_130398.4:c.742C>T MANE Select	NP_569082.2:p.Pro248Ser
NM_001319224.2:c.742C>T	NP_001306153.1:p.Pro248Ser