Canonical Allele Identifier: CA130841
Community Standard Title: NM_001159773.2(CANT1):c.-147+1G>A
Gene: CANT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.79009663C>T , CM000679.2:g.79009663C>T GRCh38
NC_000017.10:g.77005745C>T , CM000679.1:g.77005745C>T GRCh37
NC_000017.9:g.74517340C>T NCBI36
NG_016645.1:g.5155G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001159773.2:c.-147+1G>A MANE Select NP_001153245.1:n.-147+1G>A
ENST00000392446.10:c.-147+1G>A MANE Select ENSP00000376241.4:n.-147+1G>A
NM_001159772.1:c.-286+1G>A NP_001153244.1:n.-286+1G>A
NM_001159772.2:c.-286+1G>A NP_001153244.1:n.-286+1G>A
NM_001159773.1:c.-147+1G>A NP_001153245.1:n.-147+1G>A
NM_138793.3:c.-342+1G>A NP_620148.1:n.-342+1G>A
NM_138793.4:c.-342+1G>A NP_620148.1:n.-342+1G>A
ENST00000302345.6:c.-342+1G>A ENSP00000307674.2:n.-342+1G>A
ENST00000392446.9:c.-147+1G>A ENSP00000376241.4:n.-147+1G>A
ENST00000586916.6:c.-457+1G>A ENSP00000467970.1:n.-457+1G>A
ENST00000587242.5:n.130+1G>A
ENST00000588075.5:c.-513+1G>A ENSP00000465769.1:n.-513+1G>A
ENST00000588611.5:c.-428+1G>A ENSP00000465816.1:n.-428+1G>A
ENST00000590370.5:c.-318+1G>A ENSP00000466637.1:n.-318+1G>A
ENST00000591625.5:c.-452+1G>A ENSP00000467777.1:n.-452+1G>A
ENST00000591732.1:n.130+1G>A
ENST00000591773.5:c.-286+1G>A ENSP00000467437.1:n.-286+1G>A
ENST00000591811.1:c.-147+1G>A ENSP00000464841.1:n.-147+1G>A
ENST00000592033.5:c.-257+1G>A ENSP00000467886.1:n.-257+1G>A
ENST00000592228.1:c.-23+1G>A ENSP00000466743.1:n.-23+1G>A
XM_005257020.1:c.-513+1G>A XP_005257077.1:n.-513+1G>A
XM_005257022.1:c.-318+1G>A XP_005257079.1:n.-318+1G>A
XM_006721683.1:c.-457+1G>A XP_006721746.1:n.-457+1G>A
XM_011524291.1:c.-762+1G>A XP_011522593.1:n.-762+1G>A
XM_011524293.1:c.-652+1G>A XP_011522595.1:n.-652+1G>A
XM_011524295.1:c.-428+1G>A XP_011522597.1:n.-428+1G>A
XM_011524295.2:c.-428+1G>A XP_011522597.1:n.-428+1G>A
XM_024450564.1:c.-452+1G>A XP_024306332.1:n.-452+1G>A
XR_001752424.2:n.103+1G>A