Canonical Allele Identifier: CA342628820

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437837A>C (hg19) ; chr1:g.154465361A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465361A>C , CM000663.2:g.154465361A>C	GRCh38
NC_000001.10:g.154437837A>C , CM000663.1:g.154437837A>C	GRCh37
NC_000001.9:g.152704461A>C	NCBI36
NG_012087.1:g.65169A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1388A>C MANE Select	ENSP00000357470.3:p.Asp463Ala
ENST00000344086.8:c.*196A>C	ENSP00000340589.4:n.*196A>C
ENST00000368485.7:c.1388A>C	ENSP00000357470.3:p.Asp463Ala
NM_000565.3:c.1388A>C	NP_000556.1:p.Asp463Ala
NM_181359.2:c.*196A>C	NP_852004.1:n.*196A>C
XM_005245139.1:c.*69A>C	XP_005245196.1:n.*69A>C
XM_005245140.1:c.*229A>C	XP_005245197.1:n.*229A>C
XM_006711298.1:c.1436A>C	XP_006711361.1:p.Asp479Ala
XM_005245139.2:c.*69A>C	XP_005245196.1:n.*69A>C
XM_005245140.3:c.*229A>C	XP_005245197.1:n.*229A>C
XM_006711298.2:c.1436A>C	XP_006711361.1:p.Asp479Ala
XM_017001199.2:c.1535A>C	XP_016856688.1:p.Asp512Ala
XM_017001200.2:c.1487A>C	XP_016856689.1:p.Asp496Ala
XM_017001201.2:c.*229A>C	XP_016856690.1:n.*229A>C
NM_000565.4:c.1388A>C MANE Select	NP_000556.1:p.Asp463Ala
NM_181359.3:c.*196A>C	NP_852004.1:n.*196A>C
NM_001382769.1:c.1487A>C	NP_001369698.1:p.Asp496Ala
NM_001382770.1:c.1481A>C	NP_001369699.1:p.Asp494Ala
NM_001382771.1:c.1436A>C	NP_001369700.1:p.Asp479Ala
NM_001382772.1:c.1382A>C	NP_001369701.1:p.Asp461Ala
NM_001382773.1:c.*196A>C	NP_001369702.1:n.*196A>C
NM_001382774.1:c.1028A>C	NP_001369703.1:p.Asp343Ala