Canonical Allele Identifier: CA342628368

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437639T>G (hg19) ; chr1:g.154465163T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465163T>G , CM000663.2:g.154465163T>G	GRCh38
NC_000001.10:g.154437639T>G , CM000663.1:g.154437639T>G	GRCh37
NC_000001.9:g.152704263T>G	NCBI36
NG_012087.1:g.64971T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1190T>G MANE Select	ENSP00000357470.3:p.Leu397Arg
ENST00000344086.8:c.1096T>G	ENSP00000340589.4:p.Ter366Gly
ENST00000368485.7:c.1190T>G	ENSP00000357470.3:p.Leu397Arg
ENST00000502679.1:n.503T>G
ENST00000507256.1:n.388T>G
NM_000565.3:c.1190T>G	NP_000556.1:p.Leu397Arg
NM_181359.2:c.1096T>G	NP_852004.1:p.Ter366Gly
XM_005245139.1:c.954T>G	XP_005245196.1:p.Ser318=
XM_005245140.1:c.*31T>G	XP_005245197.1:n.*31T>G
XM_006711298.1:c.1238T>G	XP_006711361.1:p.Leu413Arg
XM_006711299.2:c.1144T>G	XP_006711362.1:p.Ter382Gly
XM_005245139.2:c.954T>G	XP_005245196.1:p.Ser318=
XM_005245140.3:c.*31T>G	XP_005245197.1:n.*31T>G
XM_006711298.2:c.1238T>G	XP_006711361.1:p.Leu413Arg
XM_006711299.4:c.1144T>G	XP_006711362.1:p.Ter382Gly
XM_017001199.2:c.1337T>G	XP_016856688.1:p.Leu446Arg
XM_017001200.2:c.1289T>G	XP_016856689.1:p.Leu430Arg
XM_017001201.2:c.*31T>G	XP_016856690.1:n.*31T>G
NM_000565.4:c.1190T>G MANE Select	NP_000556.1:p.Leu397Arg
NM_181359.3:c.1096T>G	NP_852004.1:p.Ter366Gly
NM_001382769.1:c.1289T>G	NP_001369698.1:p.Leu430Arg
NM_001382770.1:c.1283T>G	NP_001369699.1:p.Leu428Arg
NM_001382771.1:c.1238T>G	NP_001369700.1:p.Leu413Arg
NM_001382772.1:c.1184T>G	NP_001369701.1:p.Leu395Arg
NM_001382773.1:c.1144T>G	NP_001369702.1:p.Ter382Gly
NM_001382774.1:c.830T>G	NP_001369703.1:p.Leu277Arg