Canonical Allele Identifier: CA342621952

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154420643T>A (hg19) ; chr1:g.154448167T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154448167T>A , CM000663.2:g.154448167T>A	GRCh38
NC_000001.10:g.154420643T>A , CM000663.1:g.154420643T>A	GRCh37
NC_000001.9:g.152687267T>A	NCBI36
NG_012087.1:g.47975T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.992T>A MANE Select	ENSP00000357470.3:p.Met331Lys
ENST00000344086.8:c.992T>A	ENSP00000340589.4:p.Met331Lys
ENST00000368485.7:c.992T>A	ENSP00000357470.3:p.Met331Lys
ENST00000476006.5:c.808T>A
ENST00000507256.1:n.190T>A
ENST00000515190.1:c.400T>A
NM_000565.3:c.992T>A	NP_000556.1:p.Met331Lys
NM_181359.2:c.992T>A	NP_852004.1:p.Met331Lys
XM_005245139.1:c.850T>A	XP_005245196.1:p.Cys284Ser
XM_005245140.1:c.850T>A	XP_005245197.1:p.Cys284Ser
XM_006711298.1:c.1040T>A	XP_006711361.1:p.Met347Lys
XM_006711299.2:c.1040T>A	XP_006711362.1:p.Met347Lys
XM_005245139.2:c.850T>A	XP_005245196.1:p.Cys284Ser
XM_005245140.3:c.850T>A	XP_005245197.1:p.Cys284Ser
XM_006711298.2:c.1040T>A	XP_006711361.1:p.Met347Lys
XM_006711299.4:c.1040T>A	XP_006711362.1:p.Met347Lys
XM_017001199.2:c.1040T>A	XP_016856688.1:p.Met347Lys
XM_017001200.2:c.992T>A	XP_016856689.1:p.Met331Lys
XM_017001201.2:c.850T>A	XP_016856690.1:p.Cys284Ser
NM_000565.4:c.992T>A MANE Select	NP_000556.1:p.Met331Lys
NM_181359.3:c.992T>A	NP_852004.1:p.Met331Lys
NM_001382769.1:c.992T>A	NP_001369698.1:p.Met331Lys
NM_001382770.1:c.1085T>A	NP_001369699.1:p.Met362Lys
NM_001382771.1:c.1040T>A	NP_001369700.1:p.Met347Lys
NM_001382772.1:c.986T>A	NP_001369701.1:p.Met329Lys
NM_001382773.1:c.1040T>A	NP_001369702.1:p.Met347Lys
NM_001382774.1:c.632T>A	NP_001369703.1:p.Met211Lys