Canonical Allele Identifier: CA342621961

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154420644G>T (hg19) ; chr1:g.154448168G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154448168G>T , CM000663.2:g.154448168G>T	GRCh38
NC_000001.10:g.154420644G>T , CM000663.1:g.154420644G>T	GRCh37
NC_000001.9:g.152687268G>T	NCBI36
NG_012087.1:g.47976G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.993G>T MANE Select	ENSP00000357470.3:p.Met331Ile
ENST00000344086.8:c.993G>T	ENSP00000340589.4:p.Met331Ile
ENST00000368485.7:c.993G>T	ENSP00000357470.3:p.Met331Ile
ENST00000476006.5:c.809G>T
ENST00000507256.1:n.191G>T
ENST00000515190.1:c.401G>T
NM_000565.3:c.993G>T	NP_000556.1:p.Met331Ile
NM_181359.2:c.993G>T	NP_852004.1:p.Met331Ile
XM_005245139.1:c.851G>T	XP_005245196.1:p.Cys284Phe
XM_005245140.1:c.851G>T	XP_005245197.1:p.Cys284Phe
XM_006711298.1:c.1041G>T	XP_006711361.1:p.Met347Ile
XM_006711299.2:c.1041G>T	XP_006711362.1:p.Met347Ile
XM_005245139.2:c.851G>T	XP_005245196.1:p.Cys284Phe
XM_005245140.3:c.851G>T	XP_005245197.1:p.Cys284Phe
XM_006711298.2:c.1041G>T	XP_006711361.1:p.Met347Ile
XM_006711299.4:c.1041G>T	XP_006711362.1:p.Met347Ile
XM_017001199.2:c.1041G>T	XP_016856688.1:p.Met347Ile
XM_017001200.2:c.993G>T	XP_016856689.1:p.Met331Ile
XM_017001201.2:c.851G>T	XP_016856690.1:p.Cys284Phe
NM_000565.4:c.993G>T MANE Select	NP_000556.1:p.Met331Ile
NM_181359.3:c.993G>T	NP_852004.1:p.Met331Ile
NM_001382769.1:c.993G>T	NP_001369698.1:p.Met331Ile
NM_001382770.1:c.1086G>T	NP_001369699.1:p.Met362Ile
NM_001382771.1:c.1041G>T	NP_001369700.1:p.Met347Ile
NM_001382772.1:c.987G>T	NP_001369701.1:p.Met329Ile
NM_001382773.1:c.1041G>T	NP_001369702.1:p.Met347Ile
NM_001382774.1:c.633G>T	NP_001369703.1:p.Met211Ile