Canonical Allele Identifier: CA502398218
Community Standard Title: NM_001159773.2(CANT1):c.54C>T (p.Leu18=)
Gene: CANT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78997569G>A , CM000679.2:g.78997569G>A GRCh38
NC_000017.10:g.76993651G>A , CM000679.1:g.76993651G>A GRCh37
NC_000017.9:g.74505246G>A NCBI36
NG_016645.1:g.17249C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001159773.2:c.54C>T MANE Select NP_001153245.1:p.Leu18=
ENST00000392446.10:c.54C>T MANE Select ENSP00000376241.4:p.Leu18=
NM_001159772.1:c.54C>T NP_001153244.1:p.Leu18=
NM_001159772.2:c.54C>T NP_001153244.1:p.Leu18=
NM_001159773.1:c.54C>T NP_001153245.1:p.Leu18=
NM_138793.3:c.54C>T NP_620148.1:p.Leu18=
NM_138793.4:c.54C>T NP_620148.1:p.Leu18=
ENST00000302345.6:c.54C>T ENSP00000307674.2:p.Leu18=
ENST00000392446.9:c.54C>T ENSP00000376241.4:p.Leu18=
ENST00000586916.6:c.54C>T ENSP00000467970.1:p.Leu18=
ENST00000588075.5:c.54C>T ENSP00000465769.1:p.Leu18=
ENST00000588611.5:c.54C>T ENSP00000465816.1:p.Leu18=
ENST00000590370.5:c.54C>T ENSP00000466637.1:p.Leu18=
ENST00000591773.5:c.54C>T ENSP00000467437.1:p.Leu18=
ENST00000591811.1:c.54C>T ENSP00000464841.1:p.Leu18=
ENST00000592033.5:c.54C>T ENSP00000467886.1:p.Leu18=
ENST00000592228.1:c.54C>T ENSP00000466743.1:p.Leu18=
ENST00000620915.4:c.54C>T ENSP00000477798.1:p.Leu18=
XM_005257020.1:c.54C>T XP_005257077.1:p.Leu18=
XM_005257021.1:c.54C>T XP_005257078.1:p.Leu18=
XM_005257022.1:c.54C>T XP_005257079.1:p.Leu18=
XM_006721683.1:c.54C>T XP_006721746.1:p.Leu18=
XM_011524291.1:c.54C>T XP_011522593.1:p.Leu18=
XM_011524292.1:c.54C>T XP_011522594.1:p.Leu18=
XM_011524293.1:c.54C>T XP_011522595.1:p.Leu18=
XM_011524294.1:c.54C>T XP_011522596.1:p.Leu18=
XM_011524294.2:c.54C>T XP_011522596.1:p.Leu18=
XM_011524295.1:c.54C>T XP_011522597.1:p.Leu18=
XM_011524295.2:c.54C>T XP_011522597.1:p.Leu18=
XM_024450564.1:c.54C>T XP_024306332.1:p.Leu18=
XR_001752424.2:n.498C>T