Canonical Allele Identifier: CA529956945

Gene: EXO1

Linked Data

• dbSNP Id: rs1444913567
• gnomAD v2: 1-242053056-G-A
• gnomAD v3: 1-241889754-G-A
• gnomAD v4: 1-241889754-G-A
• MyVariant Identifiers: chr1:g.242053056G>A (hg19) ; chr1:g.241889754G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241889754G>A , CM000663.2:g.241889754G>A	GRCh38
NC_000001.10:g.242053056G>A , CM000663.1:g.242053056G>A	GRCh37
NC_000001.9:g.240119679G>A	NCBI36
NG_029100.1:g.46564G>A
NG_029100.2:g.46564G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366548.8:c.*154G>A MANE Select	ENSP00000355506.3:n.*154G>A
ENST00000348581.9:c.*154G>A	ENSP00000311873.5:n.*154G>A
ENST00000366548.7:c.*154G>A	ENSP00000355506.3:n.*154G>A
ENST00000518741.1:n.152-2770G>A
NM_003686.4:c.*281G>A	NP_003677.4:n.*281G>A
NM_006027.4:c.*154G>A	NP_006018.4:n.*154G>A
NM_130398.3:c.*154G>A	NP_569082.2:n.*154G>A
XM_005273350.2:c.*154G>A	XP_005273407.1:n.*154G>A
XM_006711840.1:c.*154G>A	XP_006711903.1:n.*154G>A
XM_011544321.1:c.*154G>A	XP_011542623.1:n.*154G>A
XM_011544322.1:c.*154G>A	XP_011542624.1:n.*154G>A
XM_011544323.1:c.*154G>A	XP_011542625.1:n.*154G>A
XM_011544324.1:c.*154G>A	XP_011542626.1:n.*154G>A
XM_011544325.1:c.*154G>A	XP_011542627.1:n.*154G>A
XR_949162.1:n.2990+4247G>A
NM_001319224.1:c.*154G>A	NP_001306153.1:n.*154G>A
XM_006711840.2:c.*154G>A	XP_006711903.1:n.*154G>A
XM_011544321.2:c.*154G>A	XP_011542623.1:n.*154G>A
XM_011544323.2:c.*154G>A	XP_011542625.1:n.*154G>A
XM_011544324.2:c.*154G>A	XP_011542626.1:n.*154G>A
XM_011544325.2:c.*154G>A	XP_011542627.1:n.*154G>A
XM_017002793.2:c.*154G>A	XP_016858282.1:n.*154G>A
NM_130398.4:c.*154G>A MANE Select	NP_569082.2:n.*154G>A
NM_001319224.2:c.*154G>A	NP_001306153.1:n.*154G>A