Canonical Allele Identifier: CA342628320

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437630T>A (hg19) ; chr1:g.154465154T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465154T>A , CM000663.2:g.154465154T>A	GRCh38
NC_000001.10:g.154437630T>A , CM000663.1:g.154437630T>A	GRCh37
NC_000001.9:g.152704254T>A	NCBI36
NG_012087.1:g.64962T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1181T>A MANE Select	ENSP00000357470.3:p.Leu394Gln
ENST00000344086.8:c.1087T>A	ENSP00000340589.4:p.Cys363Ser
ENST00000368485.7:c.1181T>A	ENSP00000357470.3:p.Leu394Gln
ENST00000502679.1:n.494T>A
ENST00000507256.1:n.379T>A
NM_000565.3:c.1181T>A	NP_000556.1:p.Leu394Gln
NM_181359.2:c.1087T>A	NP_852004.1:p.Cys363Ser
XM_005245139.1:c.945T>A	XP_005245196.1:p.Ala315=
XM_005245140.1:c.*22T>A	XP_005245197.1:n.*22T>A
XM_006711298.1:c.1229T>A	XP_006711361.1:p.Leu410Gln
XM_006711299.2:c.1135T>A	XP_006711362.1:p.Cys379Ser
XM_005245139.2:c.945T>A	XP_005245196.1:p.Ala315=
XM_005245140.3:c.*22T>A	XP_005245197.1:n.*22T>A
XM_006711298.2:c.1229T>A	XP_006711361.1:p.Leu410Gln
XM_006711299.4:c.1135T>A	XP_006711362.1:p.Cys379Ser
XM_017001199.2:c.1328T>A	XP_016856688.1:p.Leu443Gln
XM_017001200.2:c.1280T>A	XP_016856689.1:p.Leu427Gln
XM_017001201.2:c.*22T>A	XP_016856690.1:n.*22T>A
NM_000565.4:c.1181T>A MANE Select	NP_000556.1:p.Leu394Gln
NM_181359.3:c.1087T>A	NP_852004.1:p.Cys363Ser
NM_001382769.1:c.1280T>A	NP_001369698.1:p.Leu427Gln
NM_001382770.1:c.1274T>A	NP_001369699.1:p.Leu425Gln
NM_001382771.1:c.1229T>A	NP_001369700.1:p.Leu410Gln
NM_001382772.1:c.1175T>A	NP_001369701.1:p.Leu392Gln
NM_001382773.1:c.1135T>A	NP_001369702.1:p.Cys379Ser
NM_001382774.1:c.821T>A	NP_001369703.1:p.Leu274Gln