Canonical Allele Identifier: CA342628452

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437671T>C (hg19) ; chr1:g.154465195T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465195T>C , CM000663.2:g.154465195T>C	GRCh38
NC_000001.10:g.154437671T>C , CM000663.1:g.154437671T>C	GRCh37
NC_000001.9:g.152704295T>C	NCBI36
NG_012087.1:g.65003T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1222T>C MANE Select	ENSP00000357470.3:p.Tyr408His
ENST00000344086.8:c.*30T>C	ENSP00000340589.4:n.*30T>C
ENST00000368485.7:c.1222T>C	ENSP00000357470.3:p.Tyr408His
ENST00000502679.1:n.535T>C
ENST00000507256.1:n.420T>C
NM_000565.3:c.1222T>C	NP_000556.1:p.Tyr408His
NM_181359.2:c.*30T>C	NP_852004.1:n.*30T>C
XM_005245139.1:c.986T>C	XP_005245196.1:p.Val329Ala
XM_005245140.1:c.*63T>C	XP_005245197.1:n.*63T>C
XM_006711298.1:c.1270T>C	XP_006711361.1:p.Tyr424His
XM_006711299.2:c.*30T>C	XP_006711362.1:n.*30T>C
XM_005245139.2:c.986T>C	XP_005245196.1:p.Val329Ala
XM_005245140.3:c.*63T>C	XP_005245197.1:n.*63T>C
XM_006711298.2:c.1270T>C	XP_006711361.1:p.Tyr424His
XM_006711299.4:c.*30T>C	XP_006711362.1:n.*30T>C
XM_017001199.2:c.1369T>C	XP_016856688.1:p.Tyr457His
XM_017001200.2:c.1321T>C	XP_016856689.1:p.Tyr441His
XM_017001201.2:c.*63T>C	XP_016856690.1:n.*63T>C
NM_000565.4:c.1222T>C MANE Select	NP_000556.1:p.Tyr408His
NM_181359.3:c.*30T>C	NP_852004.1:n.*30T>C
NM_001382769.1:c.1321T>C	NP_001369698.1:p.Tyr441His
NM_001382770.1:c.1315T>C	NP_001369699.1:p.Tyr439His
NM_001382771.1:c.1270T>C	NP_001369700.1:p.Tyr424His
NM_001382772.1:c.1216T>C	NP_001369701.1:p.Tyr406His
NM_001382773.1:c.*30T>C	NP_001369702.1:n.*30T>C
NM_001382774.1:c.862T>C	NP_001369703.1:p.Tyr288His