Canonical Allele Identifier: CA1481578

Gene: EXO1

Linked Data

• ClinVar Variation Id: 3060942
• ClinVar RCV Id: RCV003982454
• dbSNP Id: rs9350
• ExAC: 1:242048674 C / T
• gnomAD v2: 1-242048674-C-T
• gnomAD v3: 1-241885372-C-T
• gnomAD v4: 1-241885372-C-T
• MyVariant Identifiers: chr1:g.242048674C>T (hg19) ; chr1:g.241885372C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241885372C>T , CM000663.2:g.241885372C>T	GRCh38
NC_000001.10:g.242048674C>T , CM000663.1:g.242048674C>T	GRCh37
NC_000001.9:g.240115297C>T	NCBI36
NG_029100.1:g.42182C>T
NG_029100.2:g.42182C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366548.8:c.2270C>T MANE Select	ENSP00000355506.3:p.Pro757Leu
ENST00000348581.9:c.2270C>T	ENSP00000311873.5:p.Pro757Leu
ENST00000366548.7:c.2270C>T	ENSP00000355506.3:p.Pro757Leu
ENST00000518483.5:c.2270C>T	ENSP00000430251.1:p.Pro757Leu
ENST00000518741.1:n.16C>T
ENST00000521202.2:c.363C>T
NM_003686.4:c.2270C>T	NP_003677.4:p.Pro757Leu
NM_006027.4:c.2270C>T	NP_006018.4:p.Pro757Leu
NM_130398.3:c.2270C>T	NP_569082.2:p.Pro757Leu
XM_005273350.2:c.2267C>T	XP_005273407.1:p.Pro756Leu
XM_006711840.1:c.2270C>T	XP_006711903.1:p.Pro757Leu
XM_011544321.1:c.2270C>T	XP_011542623.1:p.Pro757Leu
XM_011544322.1:c.2270C>T	XP_011542624.1:p.Pro757Leu
XM_011544323.1:c.2267C>T	XP_011542625.1:p.Pro756Leu
XM_011544324.1:c.2150C>T	XP_011542626.1:p.Pro717Leu
XM_011544325.1:c.1307C>T	XP_011542627.1:p.Pro436Leu
XR_949162.1:n.2855C>T
NM_001319224.1:c.2267C>T	NP_001306153.1:p.Pro756Leu
XM_006711840.2:c.2270C>T	XP_006711903.1:p.Pro757Leu
XM_011544321.2:c.2270C>T	XP_011542623.1:p.Pro757Leu
XM_011544323.2:c.2267C>T	XP_011542625.1:p.Pro756Leu
XM_011544324.2:c.2150C>T	XP_011542626.1:p.Pro717Leu
XM_011544325.2:c.1307C>T	XP_011542627.1:p.Pro436Leu
XM_017002793.2:c.2150C>T	XP_016858282.1:p.Pro717Leu
NM_130398.4:c.2270C>T MANE Select	NP_569082.2:p.Pro757Leu
NM_001319224.2:c.2267C>T	NP_001306153.1:p.Pro756Leu