Canonical Allele Identifier: CA733700346

Gene: EXO1

Linked Data

• dbSNP Id: rs1435132030
• gnomAD v3: 1-241870965-G-T
• gnomAD v4: 1-241870965-G-T
• MyVariant Identifiers: chr1:g.242034267G>T (hg19) ; chr1:g.241870965G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241870965G>T , CM000663.2:g.241870965G>T	GRCh38
NC_000001.10:g.242034267G>T , CM000663.1:g.242034267G>T	GRCh37
NC_000001.9:g.240100890G>T	NCBI36
NG_029100.1:g.27775G>T
NG_029100.2:g.27775G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366548.8:c.1268-1067G>T MANE Select	ENSP00000355506.3:n.1268-1067G>T
ENST00000348581.9:c.1268-1067G>T	ENSP00000311873.5:n.1268-1067G>T
ENST00000366548.7:c.1268-1067G>T	ENSP00000355506.3:n.1268-1067G>T
ENST00000518483.5:c.1268-1067G>T	ENSP00000430251.1:n.1268-1067G>T
NM_003686.4:c.1268-1067G>T	NP_003677.4:n.1268-1067G>T
NM_006027.4:c.1268-1067G>T	NP_006018.4:n.1268-1067G>T
NM_130398.3:c.1268-1067G>T	NP_569082.2:n.1268-1067G>T
XM_005273350.2:c.1268-1070G>T	XP_005273407.1:n.1268-1070G>T
XM_006711840.1:c.1268-1067G>T	XP_006711903.1:n.1268-1067G>T
XM_011544321.1:c.1268-1067G>T	XP_011542623.1:n.1268-1067G>T
XM_011544322.1:c.1268-1067G>T	XP_011542624.1:n.1268-1067G>T
XM_011544323.1:c.1268-1070G>T	XP_011542625.1:n.1268-1070G>T
XM_011544324.1:c.1148-1067G>T	XP_011542626.1:n.1148-1067G>T
XM_011544325.1:c.305-1067G>T	XP_011542627.1:n.305-1067G>T
XM_011544326.1:c.1268-1067G>T	XP_011542628.1:n.1268-1067G>T
XR_949162.1:n.1853-1067G>T
NM_001319224.1:c.1268-1070G>T	NP_001306153.1:n.1268-1070G>T
XM_006711840.2:c.1268-1067G>T	XP_006711903.1:n.1268-1067G>T
XM_011544321.2:c.1268-1067G>T	XP_011542623.1:n.1268-1067G>T
XM_011544323.2:c.1268-1070G>T	XP_011542625.1:n.1268-1070G>T
XM_011544324.2:c.1148-1067G>T	XP_011542626.1:n.1148-1067G>T
XM_011544325.2:c.305-1067G>T	XP_011542627.1:n.305-1067G>T
XM_017002793.2:c.1148-1067G>T	XP_016858282.1:n.1148-1067G>T
NM_130398.4:c.1268-1067G>T MANE Select	NP_569082.2:n.1268-1067G>T
NM_001319224.2:c.1268-1070G>T	NP_001306153.1:n.1268-1070G>T