Canonical Allele Identifier: CA342624941

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154427036T>G (hg19) ; chr1:g.154454560T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154454560T>G , CM000663.2:g.154454560T>G	GRCh38
NC_000001.10:g.154427036T>G , CM000663.1:g.154427036T>G	GRCh37
NC_000001.9:g.152693660T>G	NCBI36
NG_012087.1:g.54368T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1139T>G MANE Select	ENSP00000357470.3:p.Leu380Arg
ENST00000344086.8:c.1066+4580T>G	ENSP00000340589.4:n.1066+4580T>G
ENST00000368485.7:c.1139T>G	ENSP00000357470.3:p.Leu380Arg
ENST00000502679.1:n.452T>G
ENST00000507256.1:n.337T>G
ENST00000515190.1:c.547T>G
NM_000565.3:c.1139T>G	NP_000556.1:p.Leu380Arg
NM_181359.2:c.1066+4580T>G	NP_852004.1:n.1066+4580T>G
XM_005245139.1:c.924+4580T>G	XP_005245196.1:n.924+4580T>G
XM_005245140.1:c.997T>G	XP_005245197.1:p.Ser333Ala
XM_006711298.1:c.1187T>G	XP_006711361.1:p.Leu396Arg
XM_006711299.2:c.1114+4580T>G	XP_006711362.1:n.1114+4580T>G
XM_005245139.2:c.924+4580T>G	XP_005245196.1:n.924+4580T>G
XM_005245140.3:c.997T>G	XP_005245197.1:p.Ser333Ala
XM_006711298.2:c.1187T>G	XP_006711361.1:p.Leu396Arg
XM_006711299.4:c.1114+4580T>G	XP_006711362.1:n.1114+4580T>G
XM_017001199.2:c.1286T>G	XP_016856688.1:p.Leu429Arg
XM_017001200.2:c.1238T>G	XP_016856689.1:p.Leu413Arg
XM_017001201.2:c.1096T>G	XP_016856690.1:p.Ser366Ala
NM_000565.4:c.1139T>G MANE Select	NP_000556.1:p.Leu380Arg
NM_181359.3:c.1066+4580T>G	NP_852004.1:n.1066+4580T>G
NM_001382769.1:c.1238T>G	NP_001369698.1:p.Leu413Arg
NM_001382770.1:c.1232T>G	NP_001369699.1:p.Leu411Arg
NM_001382771.1:c.1187T>G	NP_001369700.1:p.Leu396Arg
NM_001382772.1:c.1133T>G	NP_001369701.1:p.Leu378Arg
NM_001382773.1:c.1114+4580T>G	NP_001369702.1:n.1114+4580T>G
NM_001382774.1:c.779T>G	NP_001369703.1:p.Leu260Arg