Canonical Allele Identifier: CA342621869

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154420633T>G (hg19) ; chr1:g.154448157T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154448157T>G , CM000663.2:g.154448157T>G	GRCh38
NC_000001.10:g.154420633T>G , CM000663.1:g.154420633T>G	GRCh37
NC_000001.9:g.152687257T>G	NCBI36
NG_012087.1:g.47965T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000368485.8:c.982T>G MANE Select	ENSP00000357470.3:p.Ser328Ala
ENST00000344086.8:c.982T>G	ENSP00000340589.4:p.Ser328Ala
ENST00000368485.7:c.982T>G	ENSP00000357470.3:p.Ser328Ala
ENST00000476006.5:c.798T>G
ENST00000507256.1:n.180T>G
ENST00000515190.1:c.390T>G
NM_000565.3:c.982T>G	NP_000556.1:p.Ser328Ala
NM_181359.2:c.982T>G	NP_852004.1:p.Ser328Ala
XM_005245139.1:c.840T>G	XP_005245196.1:p.Cys280Trp
XM_005245140.1:c.840T>G	XP_005245197.1:p.Cys280Trp
XM_006711298.1:c.1030T>G	XP_006711361.1:p.Ser344Ala
XM_006711299.2:c.1030T>G	XP_006711362.1:p.Ser344Ala
XM_005245139.2:c.840T>G	XP_005245196.1:p.Cys280Trp
XM_005245140.3:c.840T>G	XP_005245197.1:p.Cys280Trp
XM_006711298.2:c.1030T>G	XP_006711361.1:p.Ser344Ala
XM_006711299.4:c.1030T>G	XP_006711362.1:p.Ser344Ala
XM_017001199.2:c.1030T>G	XP_016856688.1:p.Ser344Ala
XM_017001200.2:c.982T>G	XP_016856689.1:p.Ser328Ala
XM_017001201.2:c.840T>G	XP_016856690.1:p.Cys280Trp
NM_000565.4:c.982T>G MANE Select	NP_000556.1:p.Ser328Ala
NM_181359.3:c.982T>G	NP_852004.1:p.Ser328Ala
NM_001382769.1:c.982T>G	NP_001369698.1:p.Ser328Ala
NM_001382770.1:c.1075T>G	NP_001369699.1:p.Ser359Ala
NM_001382771.1:c.1030T>G	NP_001369700.1:p.Ser344Ala
NM_001382772.1:c.976T>G	NP_001369701.1:p.Ser326Ala
NM_001382773.1:c.1030T>G	NP_001369702.1:p.Ser344Ala
NM_001382774.1:c.622T>G	NP_001369703.1:p.Ser208Ala