Canonical Allele Identifier: CA2367248

Gene: SCAP

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265565.10:c.2392G>A MANE Select	ENSP00000265565.5:p.Val798Ile
ENST00000648151.1:c.2392G>A	ENSP00000497087.1:p.Val798Ile
ENST00000265565.9:c.2392G>A	ENSP00000265565.5:p.Val798Ile
ENST00000320017.10:c.*1109G>A	ENSP00000324296.6:n.*1109G>A
ENST00000428413.5:c.965G>A	ENSP00000401819.2:p.Arg322His
ENST00000441517.6:c.*1541G>A	ENSP00000416847.3:n.*1541G>A
ENST00000545718.2:c.1273G>A	ENSP00000438956.2:p.Val425Ile
NM_012235.2:c.2392G>A	NP_036367.2:p.Val798Ile
XM_005264967.1:c.2392G>A	XP_005265024.1:p.Val798Ile
XM_005264968.1:c.1627G>A	XP_005265025.1:p.Val543Ile
XM_005264969.1:c.1627G>A	XP_005265026.1:p.Val543Ile
XM_005264970.3:c.1216G>A	XP_005265027.1:p.Val406Ile
XM_005264971.1:c.1216G>A	XP_005265028.1:p.Val406Ile
XM_005264972.3:c.1216G>A	XP_005265029.1:p.Val406Ile
XM_011533501.1:c.2392G>A	XP_011531803.1:p.Val798Ile
XM_011533502.1:c.1249G>A	XP_011531804.1:p.Val417Ile
XR_940393.1:n.2578G>A
NM_001320044.1:c.1627G>A	NP_001306973.1:p.Val543Ile
NM_012235.3:c.2392G>A	NP_036367.2:p.Val798Ile
XM_005264967.2:c.2392G>A	XP_005265024.1:p.Val798Ile
XM_011533502.3:c.1249G>A	XP_011531804.1:p.Val417Ile
XM_017005918.1:c.2392G>A	XP_016861407.1:p.Val798Ile
XM_017005921.1:c.1216G>A	XP_016861410.1:p.Val406Ile
NM_012235.4:c.2392G>A MANE Select	NP_036367.2:p.Val798Ile
NM_001320044.2:c.1627G>A	NP_001306973.1:p.Val543Ile