Canonical Allele Identifier: CA733685451

Gene: EXO1

Linked Data

• dbSNP Id: rs1635517
• MyVariant Identifiers: chr1:g.242012033G>C (hg19) ; chr1:g.241848731G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241848731G>C , CM000663.2:g.241848731G>C	GRCh38
NC_000001.10:g.242012033G>C , CM000663.1:g.242012033G>C	GRCh37
NC_000001.9:g.240078656G>C	NCBI36
NG_029100.1:g.5541G>C
NG_029100.2:g.5541G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366548.8:c.-419G>C MANE Select	ENSP00000355506.3:n.-419G>C
ENST00000348581.9:c.-314G>C	ENSP00000311873.5:n.-314G>C
ENST00000366548.7:c.-419G>C	ENSP00000355506.3:n.-419G>C
ENST00000423131.5:c.-314G>C	ENSP00000415531.1:n.-314G>C
ENST00000519225.5:c.-314G>C	ENSP00000429720.1:n.-314G>C
ENST00000523590.5:c.-314G>C	ENSP00000430082.1:n.-314G>C
NM_003686.4:c.-314G>C	NP_003677.4:n.-314G>C
NM_006027.4:c.-314G>C	NP_006018.4:n.-314G>C
NM_130398.3:c.-419G>C	NP_569082.2:n.-419G>C
XM_005273350.2:c.-314G>C	XP_005273407.1:n.-314G>C
XM_006711840.1:c.-422G>C	XP_006711903.1:n.-422G>C
XM_011544321.1:c.-314G>C	XP_011542623.1:n.-314G>C
XM_011544322.1:c.-314G>C	XP_011542624.1:n.-314G>C
XM_011544323.1:c.-422G>C	XP_011542625.1:n.-422G>C
XM_011544324.1:c.-422G>C	XP_011542626.1:n.-422G>C
XM_011544326.1:c.-422G>C	XP_011542628.1:n.-422G>C
XM_011544327.1:c.-422G>C	XP_011542629.1:n.-422G>C
XR_949162.1:n.164G>C
NM_001319224.1:c.-314G>C	NP_001306153.1:n.-314G>C
XM_006711840.2:c.-422G>C	XP_006711903.1:n.-422G>C
XM_011544321.2:c.-314G>C	XP_011542623.1:n.-314G>C
XM_011544323.2:c.-422G>C	XP_011542625.1:n.-422G>C
XM_011544324.2:c.-422G>C	XP_011542626.1:n.-422G>C
XM_017002793.2:c.-314G>C	XP_016858282.1:n.-314G>C
NM_130398.4:c.-419G>C MANE Select	NP_569082.2:n.-419G>C
NM_001319224.2:c.-314G>C	NP_001306153.1:n.-314G>C