Canonical Allele Identifier: CA424089741

Gene: EXO1

Linked Data

• gnomAD v4: 1-241881976-T-C
• MyVariant Identifiers: chr1:g.242045278T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241881976T>C , CM000663.2:g.241881976T>C	GRCh38
NC_000001.10:g.242045278T>C , CM000663.1:g.242045278T>C	GRCh37
NC_000001.9:g.240111901T>C	NCBI36
NG_029100.1:g.38786T>C
NG_029100.2:g.38786T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366548.8:c.2170T>C MANE Select	ENSP00000355506.3:p.Leu724=
ENST00000348581.9:c.2170T>C	ENSP00000311873.5:p.Leu724=
ENST00000366548.7:c.2170T>C	ENSP00000355506.3:p.Leu724=
ENST00000518483.5:c.2170T>C	ENSP00000430251.1:p.Leu724=
ENST00000521202.2:c.304+2633T>C
NM_003686.4:c.2170T>C	NP_003677.4:p.Leu724=
NM_006027.4:c.2170T>C	NP_006018.4:p.Leu724=
NM_130398.3:c.2170T>C	NP_569082.2:p.Leu724=
XM_005273350.2:c.2167T>C	XP_005273407.1:p.Leu723=
XM_006711840.1:c.2170T>C	XP_006711903.1:p.Leu724=
XM_011544321.1:c.2170T>C	XP_011542623.1:p.Leu724=
XM_011544322.1:c.2170T>C	XP_011542624.1:p.Leu724=
XM_011544323.1:c.2167T>C	XP_011542625.1:p.Leu723=
XM_011544324.1:c.2050T>C	XP_011542626.1:p.Leu684=
XM_011544325.1:c.1207T>C	XP_011542627.1:p.Leu403=
XR_949162.1:n.2755T>C
NM_001319224.1:c.2167T>C	NP_001306153.1:p.Leu723=
XM_006711840.2:c.2170T>C	XP_006711903.1:p.Leu724=
XM_011544321.2:c.2170T>C	XP_011542623.1:p.Leu724=
XM_011544323.2:c.2167T>C	XP_011542625.1:p.Leu723=
XM_011544324.2:c.2050T>C	XP_011542626.1:p.Leu684=
XM_011544325.2:c.1207T>C	XP_011542627.1:p.Leu403=
XM_017002793.2:c.2050T>C	XP_016858282.1:p.Leu684=
NM_130398.4:c.2170T>C MANE Select	NP_569082.2:p.Leu724=
NM_001319224.2:c.2167T>C	NP_001306153.1:p.Leu723=