Canonical Allele Identifier: CA1361887543
Community Standard Title: NM_024513.4(FYCO1):c.4127T= (p.Leu1376=)
Gene: FYCO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.45931195A= , CM000665.2:g.45931195A= GRCh38
NC_000003.11:g.45972687A= , CM000665.1:g.45972687A= GRCh37
NC_000003.10:g.45947691A= NCBI36
NG_031955.1:g.69630T=

Transcript Alleles

HGVS Amino-acid Change
NM_024513.4:c.4127T= MANE Select NP_078789.2:p.Leu1376=
ENST00000296137.7:c.4127T= MANE Select ENSP00000296137.2:p.Leu1376=
NM_001386421.1:c.4127T= NP_001373350.1:p.Leu1376=
NM_001386422.1:c.4127T= NP_001373351.1:p.Leu1376=
NM_001386423.1:c.4124T= NP_001373352.1:p.Leu1375=
NM_001386424.1:c.4127T= NP_001373353.1:p.Leu1376=
NM_001386425.1:c.4127T= NP_001373354.1:p.Leu1376=
NM_001386426.1:c.4007T= NP_001373355.1:p.Leu1336=
NM_001386427.1:c.3983T= NP_001373356.1:p.Leu1328=
NM_001386428.1:c.4127T= NP_001373357.1:p.Leu1376=
NM_001386429.1:c.4127T= NP_001373358.1:p.Leu1376=
NM_001386430.1:c.3527T= NP_001373359.1:p.Leu1176=
NM_024513.3:c.4127T= NP_078789.2:p.Leu1376=
NR_170107.1:n.4342T=
ENST00000296137.6:c.4127T= ENSP00000296137.2:p.Leu1376=
ENST00000433878.5:c.493T=
ENST00000438446.1:c.140T= ENSP00000398517.1:p.Leu47=
ENST00000535325.5:c.4187T= ENSP00000441178.1:p.Leu1396=
ENST00000691721.1:n.260T=
XM_006713333.2:c.4127T= XP_006713396.1:p.Leu1376=
XM_006713333.3:c.4127T= XP_006713396.1:p.Leu1376=
XM_006713334.2:c.4127T= XP_006713397.1:p.Leu1376=
XM_006713334.3:c.4127T= XP_006713397.1:p.Leu1376=
XM_011534111.1:c.4127T= XP_011532413.1:p.Leu1376=
XM_011534111.3:c.4127T= XP_011532413.1:p.Leu1376=
XM_011534112.1:c.4127T= XP_011532414.1:p.Leu1376=
XR_001740265.1:n.4223T=
XR_245157.1:n.4342T=