Canonical Allele Identifier: CA1014043022

Gene: EXO1

Linked Data

• dbSNP Id: rs1662039174
• gnomAD v3: 1-241870789-T-C
• gnomAD v4: 1-241870789-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241870789T>C , CM000663.2:g.241870789T>C	GRCh38
NC_000001.10:g.242034091T>C , CM000663.1:g.242034091T>C	GRCh37
NC_000001.9:g.240100714T>C	NCBI36
NG_029100.1:g.27599T>C
NG_029100.2:g.27599T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366548.8:c.1268-1243T>C MANE Select	ENSP00000355506.3:n.1268-1243T>C
ENST00000348581.9:c.1268-1243T>C	ENSP00000311873.5:n.1268-1243T>C
ENST00000366548.7:c.1268-1243T>C	ENSP00000355506.3:n.1268-1243T>C
ENST00000518483.5:c.1268-1243T>C	ENSP00000430251.1:n.1268-1243T>C
NM_003686.4:c.1268-1243T>C	NP_003677.4:n.1268-1243T>C
NM_006027.4:c.1268-1243T>C	NP_006018.4:n.1268-1243T>C
NM_130398.3:c.1268-1243T>C	NP_569082.2:n.1268-1243T>C
XM_005273350.2:c.1268-1246T>C	XP_005273407.1:n.1268-1246T>C
XM_006711840.1:c.1268-1243T>C	XP_006711903.1:n.1268-1243T>C
XM_011544321.1:c.1268-1243T>C	XP_011542623.1:n.1268-1243T>C
XM_011544322.1:c.1268-1243T>C	XP_011542624.1:n.1268-1243T>C
XM_011544323.1:c.1268-1246T>C	XP_011542625.1:n.1268-1246T>C
XM_011544324.1:c.1148-1243T>C	XP_011542626.1:n.1148-1243T>C
XM_011544325.1:c.305-1243T>C	XP_011542627.1:n.305-1243T>C
XM_011544326.1:c.1268-1243T>C	XP_011542628.1:n.1268-1243T>C
XR_949162.1:n.1853-1243T>C
NM_001319224.1:c.1268-1246T>C	NP_001306153.1:n.1268-1246T>C
XM_006711840.2:c.1268-1243T>C	XP_006711903.1:n.1268-1243T>C
XM_011544321.2:c.1268-1243T>C	XP_011542623.1:n.1268-1243T>C
XM_011544323.2:c.1268-1246T>C	XP_011542625.1:n.1268-1246T>C
XM_011544324.2:c.1148-1243T>C	XP_011542626.1:n.1148-1243T>C
XM_011544325.2:c.305-1243T>C	XP_011542627.1:n.305-1243T>C
XM_017002793.2:c.1148-1243T>C	XP_016858282.1:n.1148-1243T>C
NM_130398.4:c.1268-1243T>C MANE Select	NP_569082.2:n.1268-1243T>C
NM_001319224.2:c.1268-1246T>C	NP_001306153.1:n.1268-1246T>C