Canonical Allele Identifier: CA342628541

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437716G>T (hg19) ; chr1:g.154465240G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465240G>T , CM000663.2:g.154465240G>T	GRCh38
NC_000001.10:g.154437716G>T , CM000663.1:g.154437716G>T	GRCh37
NC_000001.9:g.152704340G>T	NCBI36
NG_012087.1:g.65048G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1267G>T MANE Select	ENSP00000357470.3:p.Val423Leu
ENST00000344086.8:c.*75G>T	ENSP00000340589.4:n.*75G>T
ENST00000368485.7:c.1267G>T	ENSP00000357470.3:p.Val423Leu
ENST00000502679.1:n.580G>T
ENST00000507256.1:n.465G>T
NM_000565.3:c.1267G>T	NP_000556.1:p.Val423Leu
NM_181359.2:c.*75G>T	NP_852004.1:n.*75G>T
XM_005245139.1:c.1031G>T	XP_005245196.1:p.Ser344Ile
XM_005245140.1:c.*108G>T	XP_005245197.1:n.*108G>T
XM_006711298.1:c.1315G>T	XP_006711361.1:p.Val439Leu
XM_006711299.2:c.*75G>T	XP_006711362.1:n.*75G>T
XM_005245139.2:c.1031G>T	XP_005245196.1:p.Ser344Ile
XM_005245140.3:c.*108G>T	XP_005245197.1:n.*108G>T
XM_006711298.2:c.1315G>T	XP_006711361.1:p.Val439Leu
XM_006711299.4:c.*75G>T	XP_006711362.1:n.*75G>T
XM_017001199.2:c.1414G>T	XP_016856688.1:p.Val472Leu
XM_017001200.2:c.1366G>T	XP_016856689.1:p.Val456Leu
XM_017001201.2:c.*108G>T	XP_016856690.1:n.*108G>T
NM_000565.4:c.1267G>T MANE Select	NP_000556.1:p.Val423Leu
NM_181359.3:c.*75G>T	NP_852004.1:n.*75G>T
NM_001382769.1:c.1366G>T	NP_001369698.1:p.Val456Leu
NM_001382770.1:c.1360G>T	NP_001369699.1:p.Val454Leu
NM_001382771.1:c.1315G>T	NP_001369700.1:p.Val439Leu
NM_001382772.1:c.1261G>T	NP_001369701.1:p.Val421Leu
NM_001382773.1:c.*75G>T	NP_001369702.1:n.*75G>T
NM_001382774.1:c.907G>T	NP_001369703.1:p.Val303Leu