Canonical Allele Identifier: CA8808638
Gene: CANT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1591203
ClinVar RCV Id: RCV002119825
dbSNP Id: rs780527463

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78995178G>A , CM000679.2:g.78995178G>A GRCh38
NC_000017.10:g.76991260G>A , CM000679.1:g.76991260G>A GRCh37
NC_000017.9:g.74502855G>A NCBI36
NG_016645.1:g.19640C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392446.10:c.675C>T MANE Select ENSP00000376241.4:p.Tyr225=
ENST00000302345.6:c.675C>T ENSP00000307674.2:p.Tyr225=
ENST00000392446.9:c.675C>T ENSP00000376241.4:p.Tyr225=
ENST00000588096.1:n.72C>T
ENST00000591773.5:c.675C>T ENSP00000467437.1:p.Tyr225=
ENST00000592228.1:c.647+1798C>T ENSP00000466743.1:n.647+1798C>T
ENST00000620915.4:c.675C>T ENSP00000477798.1:p.Tyr225=
NM_001159772.1:c.675C>T NP_001153244.1:p.Tyr225=
NM_001159773.1:c.675C>T NP_001153245.1:p.Tyr225=
NM_138793.3:c.675C>T NP_620148.1:p.Tyr225=
XM_005257020.1:c.675C>T XP_005257077.1:p.Tyr225=
XM_005257021.1:c.675C>T XP_005257078.1:p.Tyr225=
XM_005257022.1:c.675C>T XP_005257079.1:p.Tyr225=
XM_006721683.1:c.675C>T XP_006721746.1:p.Tyr225=
XM_011524291.1:c.675C>T XP_011522593.1:p.Tyr225=
XM_011524292.1:c.675C>T XP_011522594.1:p.Tyr225=
XM_011524293.1:c.675C>T XP_011522595.1:p.Tyr225=
XM_011524294.1:c.675C>T XP_011522596.1:p.Tyr225=
XM_011524295.1:c.675C>T XP_011522597.1:p.Tyr225=
XM_011524294.2:c.675C>T XP_011522596.1:p.Tyr225=
XM_011524295.2:c.675C>T XP_011522597.1:p.Tyr225=
XM_024450564.1:c.675C>T XP_024306332.1:p.Tyr225=
XR_001752424.2:n.1119C>T
NM_001159773.2:c.675C>T MANE Select NP_001153245.1:p.Tyr225=
NM_001159772.2:c.675C>T NP_001153244.1:p.Tyr225=
NM_138793.4:c.675C>T NP_620148.1:p.Tyr225=