Canonical Allele Identifier: CA11140227

Gene: SP140

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.230226508T>G , CM000664.2:g.230226508T>G	GRCh38
NC_000002.11:g.231091223T>G , CM000664.1:g.231091223T>G	GRCh37
NC_000002.10:g.230799467T>G	NCBI36
NG_051286.1:g.28585T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392045.8:c.59+605T>G MANE Select	ENSP00000375899.3:n.59+605T>G
ENST00000343805.10:c.59+605T>G	ENSP00000342096.6:n.59+605T>G
ENST00000373645.3:c.59+605T>G	ENSP00000362749.3:n.59+605T>G
ENST00000392045.7:c.59+605T>G	ENSP00000375899.3:n.59+605T>G
ENST00000417495.7:c.59+605T>G	ENSP00000393618.3:n.59+605T>G
ENST00000420434.7:c.59+605T>G	ENSP00000398210.3:n.59+605T>G
ENST00000456542.5:c.59+605T>G	ENSP00000475284.1:n.59+605T>G
ENST00000473711.1:n.112+605T>G
ENST00000543928.5:n.155+605T>G
NM_001005176.2:c.59+605T>G	NP_001005176.1:n.59+605T>G
NM_001278451.1:c.59+605T>G	NP_001265380.1:n.59+605T>G
NM_001278452.1:c.59+605T>G	NP_001265381.1:n.59+605T>G
NM_001278453.1:c.59+605T>G	NP_001265382.1:n.59+605T>G
NM_007237.4:c.59+605T>G	NP_009168.4:n.59+605T>G
XM_005246252.2:c.59+605T>G	XP_005246309.1:n.59+605T>G
XM_005246253.2:c.59+605T>G	XP_005246310.1:n.59+605T>G
XM_005246254.2:c.59+605T>G	XP_005246311.1:n.59+605T>G
XM_005246255.2:c.59+605T>G	XP_005246312.1:n.59+605T>G
XM_005246256.2:c.59+605T>G	XP_005246313.1:n.59+605T>G
XM_006712223.2:c.59+605T>G	XP_006712286.1:n.59+605T>G
XM_011510515.1:c.59+605T>G	XP_011508817.1:n.59+605T>G
XM_011510516.1:c.59+605T>G	XP_011508818.1:n.59+605T>G
XM_011510517.1:c.-1-10575T>G	XP_011508819.1:n.-1-10575T>G
XM_011510518.1:c.-140+605T>G	XP_011508820.1:n.-140+605T>G
XM_011510519.1:c.59+605T>G	XP_011508821.1:n.59+605T>G
XM_011510520.1:c.59+605T>G	XP_011508822.1:n.59+605T>G
XM_011510521.1:c.59+605T>G	XP_011508823.1:n.59+605T>G
XM_011510522.1:c.59+605T>G	XP_011508824.1:n.59+605T>G
XM_011510523.1:c.59+605T>G	XP_011508825.1:n.59+605T>G
XR_922832.1:n.138+605T>G
XM_006712223.3:c.59+605T>G	XP_006712286.1:n.59+605T>G
XM_011510517.3:c.-1-10575T>G	XP_011508819.1:n.-1-10575T>G
XM_011510518.2:c.-140+605T>G	XP_011508820.1:n.-140+605T>G
XM_017003239.1:c.59+605T>G	XP_016858728.1:n.59+605T>G
XM_017003240.1:c.59+605T>G	XP_016858729.1:n.59+605T>G
XM_017003241.1:c.59+605T>G	XP_016858730.1:n.59+605T>G
XM_017003242.1:c.59+605T>G	XP_016858731.1:n.59+605T>G
XM_017003243.1:c.59+605T>G	XP_016858732.1:n.59+605T>G
XM_017003244.1:c.-140+605T>G	XP_016858733.1:n.-140+605T>G
XM_017003245.1:c.59+605T>G	XP_016858734.1:n.59+605T>G
XM_017003246.1:c.59+605T>G	XP_016858735.1:n.59+605T>G
XM_017003247.1:c.59+605T>G	XP_016858736.1:n.59+605T>G
XM_017003248.1:c.59+605T>G	XP_016858737.1:n.59+605T>G
XM_017003249.1:c.59+605T>G	XP_016858738.1:n.59+605T>G
XM_017003250.1:c.59+605T>G	XP_016858739.1:n.59+605T>G
XM_017003251.2:c.-140+605T>G	XP_016858740.1:n.-140+605T>G
XM_017003252.1:c.59+605T>G	XP_016858741.1:n.59+605T>G
XR_001738595.1:n.138+605T>G
XR_001738596.1:n.138+605T>G
NM_007237.5:c.59+605T>G MANE Select	NP_009168.4:n.59+605T>G
NM_001005176.3:c.59+605T>G	NP_001005176.1:n.59+605T>G
NM_001278452.2:c.59+605T>G	NP_001265381.1:n.59+605T>G
NM_001278453.2:c.59+605T>G	NP_001265382.1:n.59+605T>G
NM_001278451.2:c.59+605T>G	NP_001265380.1:n.59+605T>G