Canonical Allele Identifier: CA342628329

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437631G>A (hg19) ; chr1:g.154465155G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465155G>A , CM000663.2:g.154465155G>A	GRCh38
NC_000001.10:g.154437631G>A , CM000663.1:g.154437631G>A	GRCh37
NC_000001.9:g.152704255G>A	NCBI36
NG_012087.1:g.64963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1182G>A MANE Select	ENSP00000357470.3:p.Leu394=
ENST00000344086.8:c.1088G>A	ENSP00000340589.4:p.Cys363Tyr
ENST00000368485.7:c.1182G>A	ENSP00000357470.3:p.Leu394=
ENST00000502679.1:n.495G>A
ENST00000507256.1:n.380G>A
NM_000565.3:c.1182G>A	NP_000556.1:p.Leu394=
NM_181359.2:c.1088G>A	NP_852004.1:p.Cys363Tyr
XM_005245139.1:c.946G>A	XP_005245196.1:p.Ala316Thr
XM_005245140.1:c.*23G>A	XP_005245197.1:n.*23G>A
XM_006711298.1:c.1230G>A	XP_006711361.1:p.Leu410=
XM_006711299.2:c.1136G>A	XP_006711362.1:p.Cys379Tyr
XM_005245139.2:c.946G>A	XP_005245196.1:p.Ala316Thr
XM_005245140.3:c.*23G>A	XP_005245197.1:n.*23G>A
XM_006711298.2:c.1230G>A	XP_006711361.1:p.Leu410=
XM_006711299.4:c.1136G>A	XP_006711362.1:p.Cys379Tyr
XM_017001199.2:c.1329G>A	XP_016856688.1:p.Leu443=
XM_017001200.2:c.1281G>A	XP_016856689.1:p.Leu427=
XM_017001201.2:c.*23G>A	XP_016856690.1:n.*23G>A
NM_000565.4:c.1182G>A MANE Select	NP_000556.1:p.Leu394=
NM_181359.3:c.1088G>A	NP_852004.1:p.Cys363Tyr
NM_001382769.1:c.1281G>A	NP_001369698.1:p.Leu427=
NM_001382770.1:c.1275G>A	NP_001369699.1:p.Leu425=
NM_001382771.1:c.1230G>A	NP_001369700.1:p.Leu410=
NM_001382772.1:c.1176G>A	NP_001369701.1:p.Leu392=
NM_001382773.1:c.1136G>A	NP_001369702.1:p.Cys379Tyr
NM_001382774.1:c.822G>A	NP_001369703.1:p.Leu274=