Canonical Allele Identifier: CA1334252942

Gene: SP140

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.230284393G= , CM000664.2:g.230284393G=	GRCh38
NC_000002.11:g.231149108G= , CM000664.1:g.231149108G=	GRCh37
NC_000002.10:g.230857352G=	NCBI36
NG_051286.1:g.86470G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392045.8:c.1546G= MANE Select	ENSP00000375899.3:p.Glu516=
ENST00000343805.10:c.1366G=	ENSP00000342096.6:p.Glu456=
ENST00000392045.7:c.1546G=	ENSP00000375899.3:p.Glu516=
ENST00000417495.7:c.1204G=	ENSP00000393618.3:p.Glu402=
ENST00000420434.7:c.1465G=	ENSP00000398210.3:p.Glu489=
ENST00000476126.1:n.158G=
NM_001278451.1:c.1465G=	NP_001265380.1:p.Glu489=
NM_001278452.1:c.1366G=	NP_001265381.1:p.Glu456=
NM_001278453.1:c.1204G=	NP_001265382.1:p.Glu402=
NM_007237.4:c.1546G=	NP_009168.4:p.Glu516=
XM_005246252.2:c.1537G=	XP_005246309.1:p.Glu513=
XM_005246253.2:c.1468G=	XP_005246310.1:p.Glu490=
XM_005246254.2:c.1444G=	XP_005246311.1:p.Glu482=
XM_005246255.2:c.1396G=	XP_005246312.1:p.Glu466=
XM_005246256.2:c.1363G=	XP_005246313.1:p.Glu455=
XM_006712223.2:c.1546G=	XP_006712286.1:p.Glu516=
XM_011510515.1:c.1528G=	XP_011508817.1:p.Glu510=
XM_011510516.1:c.1546G=	XP_011508818.1:p.Glu516=
XM_011510517.1:c.1486G=	XP_011508819.1:p.Glu496=
XM_011510518.1:c.1486G=	XP_011508820.1:p.Glu496=
XM_011510519.1:c.1465G=	XP_011508821.1:p.Glu489=
XM_011510520.1:c.1459G=	XP_011508822.1:p.Glu487=
XM_011510521.1:c.1318G=	XP_011508823.1:p.Glu440=
XM_011510522.1:c.1309G=	XP_011508824.1:p.Glu437=
XM_011510523.1:c.1546G=	XP_011508825.1:p.Glu516=
XR_922832.1:n.1625G=
XM_006712223.3:c.1546G=	XP_006712286.1:p.Glu516=
XM_011510517.3:c.1486G=	XP_011508819.1:p.Glu496=
XM_011510518.2:c.1486G=	XP_011508820.1:p.Glu496=
XM_017003239.1:c.1519G=	XP_016858728.1:p.Glu507=
XM_017003240.1:c.1450G=	XP_016858729.1:p.Glu484=
XM_017003241.1:c.1447G=	XP_016858730.1:p.Glu483=
XM_017003242.1:c.1441G=	XP_016858731.1:p.Glu481=
XM_017003243.1:c.1435G=	XP_016858732.1:p.Glu479=
XM_017003244.1:c.1408G=	XP_016858733.1:p.Glu470=
XM_017003245.1:c.1387G=	XP_016858734.1:p.Glu463=
XM_017003246.1:c.1378G=	XP_016858735.1:p.Glu460=
XM_017003247.1:c.1357G=	XP_016858736.1:p.Glu453=
XM_017003248.1:c.1354G=	XP_016858737.1:p.Glu452=
XM_017003249.1:c.1285G=	XP_016858738.1:p.Glu429=
XM_017003250.1:c.1276G=	XP_016858739.1:p.Glu426=
XM_017003251.2:c.1225G=	XP_016858740.1:p.Glu409=
XM_017003252.1:c.1213G=	XP_016858741.1:p.Glu405=
XM_017003253.1:c.787G=	XP_016858742.1:p.Glu263=
XR_001738595.1:n.1625G=
XR_001738596.1:n.1625G=
NM_007237.5:c.1546G= MANE Select	NP_009168.4:p.Glu516=
NM_001278452.2:c.1366G=	NP_001265381.1:p.Glu456=
NM_001278453.2:c.1204G=	NP_001265382.1:p.Glu402=
NM_001278451.2:c.1465G=	NP_001265380.1:p.Glu489=