Canonical Allele Identifier: CA342628549

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437720T>C (hg19) ; chr1:g.154465244T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465244T>C , CM000663.2:g.154465244T>C	GRCh38
NC_000001.10:g.154437720T>C , CM000663.1:g.154437720T>C	GRCh37
NC_000001.9:g.152704344T>C	NCBI36
NG_012087.1:g.65052T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1271T>C MANE Select	ENSP00000357470.3:p.Leu424Pro
ENST00000344086.8:c.*79T>C	ENSP00000340589.4:n.*79T>C
ENST00000368485.7:c.1271T>C	ENSP00000357470.3:p.Leu424Pro
ENST00000502679.1:n.584T>C
ENST00000507256.1:n.469T>C
NM_000565.3:c.1271T>C	NP_000556.1:p.Leu424Pro
NM_181359.2:c.*79T>C	NP_852004.1:n.*79T>C
XM_005245139.1:c.1035T>C	XP_005245196.1:p.Ala345=
XM_005245140.1:c.*112T>C	XP_005245197.1:n.*112T>C
XM_006711298.1:c.1319T>C	XP_006711361.1:p.Leu440Pro
XM_006711299.2:c.*79T>C	XP_006711362.1:n.*79T>C
XM_005245139.2:c.1035T>C	XP_005245196.1:p.Ala345=
XM_005245140.3:c.*112T>C	XP_005245197.1:n.*112T>C
XM_006711298.2:c.1319T>C	XP_006711361.1:p.Leu440Pro
XM_006711299.4:c.*79T>C	XP_006711362.1:n.*79T>C
XM_017001199.2:c.1418T>C	XP_016856688.1:p.Leu473Pro
XM_017001200.2:c.1370T>C	XP_016856689.1:p.Leu457Pro
XM_017001201.2:c.*112T>C	XP_016856690.1:n.*112T>C
NM_000565.4:c.1271T>C MANE Select	NP_000556.1:p.Leu424Pro
NM_181359.3:c.*79T>C	NP_852004.1:n.*79T>C
NM_001382769.1:c.1370T>C	NP_001369698.1:p.Leu457Pro
NM_001382770.1:c.1364T>C	NP_001369699.1:p.Leu455Pro
NM_001382771.1:c.1319T>C	NP_001369700.1:p.Leu440Pro
NM_001382772.1:c.1265T>C	NP_001369701.1:p.Leu422Pro
NM_001382773.1:c.*79T>C	NP_001369702.1:n.*79T>C
NM_001382774.1:c.911T>C	NP_001369703.1:p.Leu304Pro