Canonical Allele Identifier: CA345462326

Gene: EXO1

Linked Data

• gnomAD v4: 1-241889553-T-C
• MyVariant Identifiers: chr1:g.242052855T>C (hg19) ; chr1:g.241889553T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241889553T>C , CM000663.2:g.241889553T>C	GRCh38
NC_000001.10:g.242052855T>C , CM000663.1:g.242052855T>C	GRCh37
NC_000001.9:g.240119478T>C	NCBI36
NG_029100.1:g.46363T>C
NG_029100.2:g.46363T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366548.8:c.2494T>C MANE Select	ENSP00000355506.3:p.Phe832Leu
ENST00000348581.9:c.2494T>C	ENSP00000311873.5:p.Phe832Leu
ENST00000366548.7:c.2494T>C	ENSP00000355506.3:p.Phe832Leu
ENST00000518483.5:c.*80T>C	ENSP00000430251.1:n.*80T>C
ENST00000518741.1:n.152-2971T>C
ENST00000521202.2:c.587T>C
NM_003686.4:c.*80T>C	NP_003677.4:n.*80T>C
NM_006027.4:c.2494T>C	NP_006018.4:p.Phe832Leu
NM_130398.3:c.2494T>C	NP_569082.2:p.Phe832Leu
XM_005273350.2:c.2491T>C	XP_005273407.1:p.Phe831Leu
XM_006711840.1:c.2494T>C	XP_006711903.1:p.Phe832Leu
XM_011544321.1:c.2494T>C	XP_011542623.1:p.Phe832Leu
XM_011544322.1:c.2494T>C	XP_011542624.1:p.Phe832Leu
XM_011544323.1:c.2491T>C	XP_011542625.1:p.Phe831Leu
XM_011544324.1:c.2374T>C	XP_011542626.1:p.Phe792Leu
XM_011544325.1:c.1531T>C	XP_011542627.1:p.Phe511Leu
XR_949162.1:n.2990+4046T>C
NM_001319224.1:c.2491T>C	NP_001306153.1:p.Phe831Leu
XM_006711840.2:c.2494T>C	XP_006711903.1:p.Phe832Leu
XM_011544321.2:c.2494T>C	XP_011542623.1:p.Phe832Leu
XM_011544323.2:c.2491T>C	XP_011542625.1:p.Phe831Leu
XM_011544324.2:c.2374T>C	XP_011542626.1:p.Phe792Leu
XM_011544325.2:c.1531T>C	XP_011542627.1:p.Phe511Leu
XM_017002793.2:c.2374T>C	XP_016858282.1:p.Phe792Leu
NM_130398.4:c.2494T>C MANE Select	NP_569082.2:p.Phe832Leu
NM_001319224.2:c.2491T>C	NP_001306153.1:p.Phe831Leu