Canonical Allele Identifier: CA342628697

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437795A>C (hg19) ; chr1:g.154465319A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465319A>C , CM000663.2:g.154465319A>C	GRCh38
NC_000001.10:g.154437795A>C , CM000663.1:g.154437795A>C	GRCh37
NC_000001.9:g.152704419A>C	NCBI36
NG_012087.1:g.65127A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1346A>C MANE Select	ENSP00000357470.3:p.Asp449Ala
ENST00000344086.8:c.*154A>C	ENSP00000340589.4:n.*154A>C
ENST00000368485.7:c.1346A>C	ENSP00000357470.3:p.Asp449Ala
NM_000565.3:c.1346A>C	NP_000556.1:p.Asp449Ala
NM_181359.2:c.*154A>C	NP_852004.1:n.*154A>C
XM_005245139.1:c.*27A>C	XP_005245196.1:n.*27A>C
XM_005245140.1:c.*187A>C	XP_005245197.1:n.*187A>C
XM_006711298.1:c.1394A>C	XP_006711361.1:p.Asp465Ala
XM_005245139.2:c.*27A>C	XP_005245196.1:n.*27A>C
XM_005245140.3:c.*187A>C	XP_005245197.1:n.*187A>C
XM_006711298.2:c.1394A>C	XP_006711361.1:p.Asp465Ala
XM_017001199.2:c.1493A>C	XP_016856688.1:p.Asp498Ala
XM_017001200.2:c.1445A>C	XP_016856689.1:p.Asp482Ala
XM_017001201.2:c.*187A>C	XP_016856690.1:n.*187A>C
NM_000565.4:c.1346A>C MANE Select	NP_000556.1:p.Asp449Ala
NM_181359.3:c.*154A>C	NP_852004.1:n.*154A>C
NM_001382769.1:c.1445A>C	NP_001369698.1:p.Asp482Ala
NM_001382770.1:c.1439A>C	NP_001369699.1:p.Asp480Ala
NM_001382771.1:c.1394A>C	NP_001369700.1:p.Asp465Ala
NM_001382772.1:c.1340A>C	NP_001369701.1:p.Asp447Ala
NM_001382773.1:c.*154A>C	NP_001369702.1:n.*154A>C
NM_001382774.1:c.986A>C	NP_001369703.1:p.Asp329Ala