Canonical Allele Identifier: CA350926219

Gene: SP140

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392045.8:c.1546G>T MANE Select	ENSP00000375899.3:p.Glu516Ter
ENST00000343805.10:c.1366G>T	ENSP00000342096.6:p.Glu456Ter
ENST00000392045.7:c.1546G>T	ENSP00000375899.3:p.Glu516Ter
ENST00000417495.7:c.1204G>T	ENSP00000393618.3:p.Glu402Ter
ENST00000420434.7:c.1465G>T	ENSP00000398210.3:p.Glu489Ter
ENST00000476126.1:n.158G>T
NM_001278451.1:c.1465G>T	NP_001265380.1:p.Glu489Ter
NM_001278452.1:c.1366G>T	NP_001265381.1:p.Glu456Ter
NM_001278453.1:c.1204G>T	NP_001265382.1:p.Glu402Ter
NM_007237.4:c.1546G>T	NP_009168.4:p.Glu516Ter
XM_005246252.2:c.1537G>T	XP_005246309.1:p.Glu513Ter
XM_005246253.2:c.1468G>T	XP_005246310.1:p.Glu490Ter
XM_005246254.2:c.1444G>T	XP_005246311.1:p.Glu482Ter
XM_005246255.2:c.1396G>T	XP_005246312.1:p.Glu466Ter
XM_005246256.2:c.1363G>T	XP_005246313.1:p.Glu455Ter
XM_006712223.2:c.1546G>T	XP_006712286.1:p.Glu516Ter
XM_011510515.1:c.1528G>T	XP_011508817.1:p.Glu510Ter
XM_011510516.1:c.1546G>T	XP_011508818.1:p.Glu516Ter
XM_011510517.1:c.1486G>T	XP_011508819.1:p.Glu496Ter
XM_011510518.1:c.1486G>T	XP_011508820.1:p.Glu496Ter
XM_011510519.1:c.1465G>T	XP_011508821.1:p.Glu489Ter
XM_011510520.1:c.1459G>T	XP_011508822.1:p.Glu487Ter
XM_011510521.1:c.1318G>T	XP_011508823.1:p.Glu440Ter
XM_011510522.1:c.1309G>T	XP_011508824.1:p.Glu437Ter
XM_011510523.1:c.1546G>T	XP_011508825.1:p.Glu516Ter
XR_922832.1:n.1625G>T
XM_006712223.3:c.1546G>T	XP_006712286.1:p.Glu516Ter
XM_011510517.3:c.1486G>T	XP_011508819.1:p.Glu496Ter
XM_011510518.2:c.1486G>T	XP_011508820.1:p.Glu496Ter
XM_017003239.1:c.1519G>T	XP_016858728.1:p.Glu507Ter
XM_017003240.1:c.1450G>T	XP_016858729.1:p.Glu484Ter
XM_017003241.1:c.1447G>T	XP_016858730.1:p.Glu483Ter
XM_017003242.1:c.1441G>T	XP_016858731.1:p.Glu481Ter
XM_017003243.1:c.1435G>T	XP_016858732.1:p.Glu479Ter
XM_017003244.1:c.1408G>T	XP_016858733.1:p.Glu470Ter
XM_017003245.1:c.1387G>T	XP_016858734.1:p.Glu463Ter
XM_017003246.1:c.1378G>T	XP_016858735.1:p.Glu460Ter
XM_017003247.1:c.1357G>T	XP_016858736.1:p.Glu453Ter
XM_017003248.1:c.1354G>T	XP_016858737.1:p.Glu452Ter
XM_017003249.1:c.1285G>T	XP_016858738.1:p.Glu429Ter
XM_017003250.1:c.1276G>T	XP_016858739.1:p.Glu426Ter
XM_017003251.2:c.1225G>T	XP_016858740.1:p.Glu409Ter
XM_017003252.1:c.1213G>T	XP_016858741.1:p.Glu405Ter
XM_017003253.1:c.787G>T	XP_016858742.1:p.Glu263Ter
XR_001738595.1:n.1625G>T
XR_001738596.1:n.1625G>T
NM_007237.5:c.1546G>T MANE Select	NP_009168.4:p.Glu516Ter
NM_001278452.2:c.1366G>T	NP_001265381.1:p.Glu456Ter
NM_001278453.2:c.1204G>T	NP_001265382.1:p.Glu402Ter
NM_001278451.2:c.1465G>T	NP_001265380.1:p.Glu489Ter