Canonical Allele Identifier: CA340138888
Community Standard Title: NM_025077.4(TOE1):c.307G>C (p.Ala103Pro)
Gene: TOE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45341543G>C , CM000663.2:g.45341543G>C GRCh38
NC_000001.10:g.45807215G>C , CM000663.1:g.45807215G>C GRCh37
NC_000001.9:g.45579802G>C NCBI36
NG_008189.1:g.3928C>G , LRG_220:g.3928C>G

Transcript Alleles

HGVS Amino-acid Change
NM_025077.4:c.307G>C MANE Select NP_079353.3:p.Ala103Pro
ENST00000372090.6:c.307G>C MANE Select ENSP00000361162.5:p.Ala103Pro
NM_025077.3:c.307G>C NP_079353.3:p.Ala103Pro
ENST00000372090.5:c.307G>C ENSP00000361162.5:p.Ala103Pro
ENST00000460057.1:n.48+200G>C
ENST00000471337.5:n.385G>C
ENST00000477731.5:n.526G>C
ENST00000495703.5:n.577G>C
ENST00000671898.1:c.541-7032C>G ENSP00000499896.1:n.541-7032C>G
XM_005270412.2:c.325G>C XP_005270469.1:p.Ala109Pro
XM_005270412.4:c.325G>C XP_005270469.1:p.Ala109Pro
XM_005270413.3:c.169G>C XP_005270470.1:p.Ala57Pro
XM_005270413.5:c.169G>C XP_005270470.1:p.Ala57Pro
XM_011540569.1:c.-49+200G>C XP_011538871.1:n.-49+200G>C
XM_011540569.3:c.-49+200G>C XP_011538871.1:n.-49+200G>C
XM_024452837.1:c.256G>C XP_024308605.1:p.Ala86Pro
XR_001736951.2:n.494G>C
XR_002959287.1:n.896G>C
XR_246230.2:n.584G>C
XR_246230.4:n.494G>C
XR_426587.2:n.404G>C
XR_426587.4:n.404G>C
XR_946532.1:n.404G>C
XR_946532.3:n.404G>C