Canonical Allele Identifier: CA381262963

Gene: SCYL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65535296C>T , CM000673.2:g.65535296C>T	GRCh38
NC_000011.9:g.65302767C>T , CM000673.1:g.65302767C>T	GRCh37
NC_000011.8:g.65059343C>T	NCBI36
NG_047172.1:g.15232C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020680.4:c.1300C>T MANE Select	NP_065731.3:p.Arg434Trp
ENST00000270176.10:c.1300C>T MANE Select	ENSP00000270176.5:p.Arg434Trp
NM_001048218.1:c.1300C>T	NP_001041683.1:p.Arg434Trp
NM_001048218.2:c.1300C>T	NP_001041683.1:p.Arg434Trp
NM_020680.3:c.1300C>T	NP_065731.3:p.Arg434Trp
ENST00000270176.9:c.1300C>T	ENSP00000270176.5:p.Arg434Trp
ENST00000279270.10:c.232C>T	ENSP00000279270.7:p.Arg78Trp
ENST00000420247.6:c.1300C>T	ENSP00000408192.2:p.Arg434Trp
ENST00000524897.5:n.166C>T
ENST00000524944.5:c.1300C>T	ENSP00000432175.1:p.Arg434Trp
ENST00000525364.5:c.1300C>T	ENSP00000431635.1:p.Arg434Trp
ENST00000527009.5:c.871C>T	ENSP00000436993.1:p.Arg291Trp
ENST00000531601.1:c.128C>T
ENST00000533862.5:c.1300C>T	ENSP00000437254.1:p.Arg434Trp
XM_005274118.2:c.1300C>T	XP_005274175.1:p.Arg434Trp
XM_005274118.4:c.1300C>T	XP_005274175.1:p.Arg434Trp
XM_005274120.2:c.1300C>T	XP_005274177.1:p.Arg434Trp
XM_005274120.4:c.1300C>T	XP_005274177.1:p.Arg434Trp
XM_005274121.2:c.1300C>T	XP_005274178.1:p.Arg434Trp
XM_005274121.4:c.1300C>T	XP_005274178.1:p.Arg434Trp
XM_017018030.2:c.1300C>T	XP_016873519.1:p.Arg434Trp
XM_017018031.2:c.1300C>T	XP_016873520.1:p.Arg434Trp
XM_017018033.1:c.871C>T	XP_016873522.1:p.Arg291Trp
XM_024448619.1:c.1300C>T	XP_024304387.1:p.Arg434Trp
XM_024448620.1:c.871C>T	XP_024304388.1:p.Arg291Trp