Canonical Allele Identifier: CA1362550847
Community Standard Title: NM_012235.4(SCAP):c.2392G= (p.Val798=)
Gene: SCAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47418189C= , CM000665.2:g.47418189C= GRCh38
NC_000003.11:g.47459679C= , CM000665.1:g.47459679C= GRCh37
NC_000003.10:g.47434683C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_012235.4:c.2392G= MANE Select NP_036367.2:p.Val798=
ENST00000265565.10:c.2392G= MANE Select ENSP00000265565.5:p.Val798=
NM_001320044.1:c.1627G= NP_001306973.1:p.Val543=
NM_001320044.2:c.1627G= NP_001306973.1:p.Val543=
NM_012235.2:c.2392G= NP_036367.2:p.Val798=
NM_012235.3:c.2392G= NP_036367.2:p.Val798=
ENST00000265565.9:c.2392G= ENSP00000265565.5:p.Val798=
ENST00000320017.10:c.*1109G= ENSP00000324296.6:n.*1109G=
ENST00000428413.5:c.965G= ENSP00000401819.2:p.Arg322=
ENST00000441517.6:c.*1541G= ENSP00000416847.3:n.*1541G=
ENST00000545718.2:c.1273G= ENSP00000438956.2:p.Val425=
ENST00000648151.1:c.2392G= ENSP00000497087.1:p.Val798=
XM_005264967.1:c.2392G= XP_005265024.1:p.Val798=
XM_005264967.2:c.2392G= XP_005265024.1:p.Val798=
XM_005264968.1:c.1627G= XP_005265025.1:p.Val543=
XM_005264969.1:c.1627G= XP_005265026.1:p.Val543=
XM_005264970.3:c.1216G= XP_005265027.1:p.Val406=
XM_005264971.1:c.1216G= XP_005265028.1:p.Val406=
XM_005264972.3:c.1216G= XP_005265029.1:p.Val406=
XM_011533501.1:c.2392G= XP_011531803.1:p.Val798=
XM_011533502.1:c.1249G= XP_011531804.1:p.Val417=
XM_011533502.3:c.1249G= XP_011531804.1:p.Val417=
XM_017005918.1:c.2392G= XP_016861407.1:p.Val798=
XM_017005921.1:c.1216G= XP_016861410.1:p.Val406=
XR_940393.1:n.2578G=