Canonical Allele Identifier: CA342628356

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437636C>T (hg19) ; chr1:g.154465160C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465160C>T , CM000663.2:g.154465160C>T	GRCh38
NC_000001.10:g.154437636C>T , CM000663.1:g.154437636C>T	GRCh37
NC_000001.9:g.152704260C>T	NCBI36
NG_012087.1:g.64968C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1187C>T MANE Select	ENSP00000357470.3:p.Ala396Val
ENST00000344086.8:c.1093C>T	ENSP00000340589.4:p.Leu365Phe
ENST00000368485.7:c.1187C>T	ENSP00000357470.3:p.Ala396Val
ENST00000502679.1:n.500C>T
ENST00000507256.1:n.385C>T
NM_000565.3:c.1187C>T	NP_000556.1:p.Ala396Val
NM_181359.2:c.1093C>T	NP_852004.1:p.Leu365Phe
XM_005245139.1:c.951C>T	XP_005245196.1:p.Gly317=
XM_005245140.1:c.*28C>T	XP_005245197.1:n.*28C>T
XM_006711298.1:c.1235C>T	XP_006711361.1:p.Ala412Val
XM_006711299.2:c.1141C>T	XP_006711362.1:p.Leu381Phe
XM_005245139.2:c.951C>T	XP_005245196.1:p.Gly317=
XM_005245140.3:c.*28C>T	XP_005245197.1:n.*28C>T
XM_006711298.2:c.1235C>T	XP_006711361.1:p.Ala412Val
XM_006711299.4:c.1141C>T	XP_006711362.1:p.Leu381Phe
XM_017001199.2:c.1334C>T	XP_016856688.1:p.Ala445Val
XM_017001200.2:c.1286C>T	XP_016856689.1:p.Ala429Val
XM_017001201.2:c.*28C>T	XP_016856690.1:n.*28C>T
NM_000565.4:c.1187C>T MANE Select	NP_000556.1:p.Ala396Val
NM_181359.3:c.1093C>T	NP_852004.1:p.Leu365Phe
NM_001382769.1:c.1286C>T	NP_001369698.1:p.Ala429Val
NM_001382770.1:c.1280C>T	NP_001369699.1:p.Ala427Val
NM_001382771.1:c.1235C>T	NP_001369700.1:p.Ala412Val
NM_001382772.1:c.1181C>T	NP_001369701.1:p.Ala394Val
NM_001382773.1:c.1141C>T	NP_001369702.1:p.Leu381Phe
NM_001382774.1:c.827C>T	NP_001369703.1:p.Ala276Val