Canonical Allele Identifier: CA342624857

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154426999C>A (hg19) ; chr1:g.154454523C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154454523C>A , CM000663.2:g.154454523C>A	GRCh38
NC_000001.10:g.154426999C>A , CM000663.1:g.154426999C>A	GRCh37
NC_000001.9:g.152693623C>A	NCBI36
NG_012087.1:g.54331C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1102C>A MANE Select	ENSP00000357470.3:p.Leu368Met
ENST00000344086.8:c.1066+4543C>A	ENSP00000340589.4:n.1066+4543C>A
ENST00000368485.7:c.1102C>A	ENSP00000357470.3:p.Leu368Met
ENST00000502679.1:n.415C>A
ENST00000507256.1:n.300C>A
ENST00000515190.1:c.510C>A
NM_000565.3:c.1102C>A	NP_000556.1:p.Leu368Met
NM_181359.2:c.1066+4543C>A	NP_852004.1:n.1066+4543C>A
XM_005245139.1:c.924+4543C>A	XP_005245196.1:n.924+4543C>A
XM_005245140.1:c.960C>A	XP_005245197.1:p.Ser320=
XM_006711298.1:c.1150C>A	XP_006711361.1:p.Leu384Met
XM_006711299.2:c.1114+4543C>A	XP_006711362.1:n.1114+4543C>A
XM_005245139.2:c.924+4543C>A	XP_005245196.1:n.924+4543C>A
XM_005245140.3:c.960C>A	XP_005245197.1:p.Ser320=
XM_006711298.2:c.1150C>A	XP_006711361.1:p.Leu384Met
XM_006711299.4:c.1114+4543C>A	XP_006711362.1:n.1114+4543C>A
XM_017001199.2:c.1249C>A	XP_016856688.1:p.Leu417Met
XM_017001200.2:c.1201C>A	XP_016856689.1:p.Leu401Met
XM_017001201.2:c.1059C>A	XP_016856690.1:p.Ser353=
NM_000565.4:c.1102C>A MANE Select	NP_000556.1:p.Leu368Met
NM_181359.3:c.1066+4543C>A	NP_852004.1:n.1066+4543C>A
NM_001382769.1:c.1201C>A	NP_001369698.1:p.Leu401Met
NM_001382770.1:c.1195C>A	NP_001369699.1:p.Leu399Met
NM_001382771.1:c.1150C>A	NP_001369700.1:p.Leu384Met
NM_001382772.1:c.1096C>A	NP_001369701.1:p.Leu366Met
NM_001382773.1:c.1114+4543C>A	NP_001369702.1:n.1114+4543C>A
NM_001382774.1:c.742C>A	NP_001369703.1:p.Leu248Met