Canonical Allele Identifier: CA342628318

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437629C>A (hg19) ; chr1:g.154465153C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465153C>A , CM000663.2:g.154465153C>A	GRCh38
NC_000001.10:g.154437629C>A , CM000663.1:g.154437629C>A	GRCh37
NC_000001.9:g.152704253C>A	NCBI36
NG_012087.1:g.64961C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1180C>A MANE Select	ENSP00000357470.3:p.Leu394Met
ENST00000344086.8:c.1086C>A	ENSP00000340589.4:p.Ser362Arg
ENST00000368485.7:c.1180C>A	ENSP00000357470.3:p.Leu394Met
ENST00000502679.1:n.493C>A
ENST00000507256.1:n.378C>A
NM_000565.3:c.1180C>A	NP_000556.1:p.Leu394Met
NM_181359.2:c.1086C>A	NP_852004.1:p.Ser362Arg
XM_005245139.1:c.944C>A	XP_005245196.1:p.Ala315Asp
XM_005245140.1:c.*21C>A	XP_005245197.1:n.*21C>A
XM_006711298.1:c.1228C>A	XP_006711361.1:p.Leu410Met
XM_006711299.2:c.1134C>A	XP_006711362.1:p.Ser378Arg
XM_005245139.2:c.944C>A	XP_005245196.1:p.Ala315Asp
XM_005245140.3:c.*21C>A	XP_005245197.1:n.*21C>A
XM_006711298.2:c.1228C>A	XP_006711361.1:p.Leu410Met
XM_006711299.4:c.1134C>A	XP_006711362.1:p.Ser378Arg
XM_017001199.2:c.1327C>A	XP_016856688.1:p.Leu443Met
XM_017001200.2:c.1279C>A	XP_016856689.1:p.Leu427Met
XM_017001201.2:c.*21C>A	XP_016856690.1:n.*21C>A
NM_000565.4:c.1180C>A MANE Select	NP_000556.1:p.Leu394Met
NM_181359.3:c.1086C>A	NP_852004.1:p.Ser362Arg
NM_001382769.1:c.1279C>A	NP_001369698.1:p.Leu427Met
NM_001382770.1:c.1273C>A	NP_001369699.1:p.Leu425Met
NM_001382771.1:c.1228C>A	NP_001369700.1:p.Leu410Met
NM_001382772.1:c.1174C>A	NP_001369701.1:p.Leu392Met
NM_001382773.1:c.1134C>A	NP_001369702.1:p.Ser378Arg
NM_001382774.1:c.820C>A	NP_001369703.1:p.Leu274Met