Canonical Allele Identifier: CA359764020

Gene: IL6ST

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.55956103G>T , CM000667.2:g.55956103G>T	GRCh38
NC_000005.9:g.55251931G>T , CM000667.1:g.55251931G>T	GRCh37
NC_000005.8:g.55287688G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381294.8:c.1189C>A	ENSP00000370694.3:p.Leu397Ile
ENST00000506241.2:n.1498C>A
ENST00000577363.2:c.*594C>A	ENSP00000513861.1:n.*594C>A
ENST00000698638.1:c.286C>A	ENSP00000513851.1:p.Leu96Ile
ENST00000698639.1:c.1189C>A	ENSP00000513852.1:p.Leu397Ile
ENST00000698640.1:c.655C>A	ENSP00000513853.1:n.655C>A
ENST00000698641.1:c.*594C>A	ENSP00000513854.1:n.*594C>A
ENST00000698642.1:c.*640C>A	ENSP00000513855.1:n.*640C>A
ENST00000698643.1:c.*511C>A	ENSP00000513856.1:n.*511C>A
ENST00000698644.1:c.979C>A	ENSP00000513857.1:p.Leu327Ile
ENST00000698645.1:c.1189C>A	ENSP00000513858.1:p.Leu397Ile
ENST00000698646.1:c.1189C>A	ENSP00000513859.1:p.Leu397Ile
ENST00000698647.1:c.*808C>A	ENSP00000513860.1:n.*808C>A
ENST00000698648.1:c.*594C>A	ENSP00000513862.1:n.*594C>A
ENST00000381298.7:c.1189C>A MANE Select	ENSP00000370698.2:p.Leu397Ile
ENST00000651614.1:c.1189C>A	ENSP00000498224.1:p.Leu397Ile
ENST00000336909.9:c.1189C>A	ENSP00000338799.5:p.Leu397Ile
ENST00000381286.7:c.65-13352C>A	ENSP00000370686.3:n.65-13352C>A
ENST00000381287.8:c.*116C>A	ENSP00000370687.4:n.*116C>A
ENST00000381293.6:c.475+4299C>A	ENSP00000370693.2:n.475+4299C>A
ENST00000381294.7:c.1189C>A	ENSP00000370694.3:p.Leu397Ile
ENST00000381298.6:c.1189C>A	ENSP00000370698.2:p.Leu397Ile
ENST00000502326.7:c.1189C>A	ENSP00000462158.1:p.Leu397Ile
ENST00000503773.6:c.*233C>A	ENSP00000426224.2:n.*233C>A
ENST00000506241.1:n.295C>A
ENST00000522633.2:c.*116C>A	ENSP00000435399.1:n.*116C>A
NM_001190981.1:c.1189C>A	NP_001177910.1:p.Leu397Ile
NM_002184.3:c.1189C>A	NP_002175.2:p.Leu397Ile
NM_175767.2:c.*116C>A	NP_786943.1:n.*116C>A
NR_120480.1:n.1548C>A
XM_011543376.1:c.1189C>A	XP_011541678.1:p.Leu397Ile
NM_001364275.1:c.1189C>A	NP_001351204.1:p.Leu397Ile
NM_001364276.1:c.979C>A	NP_001351205.1:p.Leu327Ile
NM_001364277.1:c.322C>A	NP_001351206.1:p.Leu108Ile
NM_001364278.1:c.286C>A	NP_001351207.1:p.Leu96Ile
NM_001364279.1:c.193C>A	NP_001351208.1:p.Leu65Ile
NR_157112.1:n.1472C>A
NM_002184.4:c.1189C>A MANE Select	NP_002175.2:p.Leu397Ile
NM_001190981.2:c.1189C>A	NP_001177910.1:p.Leu397Ile
NM_001364275.2:c.1189C>A	NP_001351204.1:p.Leu397Ile
NM_001364276.2:c.979C>A	NP_001351205.1:p.Leu327Ile
NM_001364277.2:c.322C>A	NP_001351206.1:p.Leu108Ile
NM_001364278.2:c.286C>A	NP_001351207.1:p.Leu96Ile
NM_001364279.2:c.193C>A	NP_001351208.1:p.Leu65Ile
NM_175767.3:c.*116C>A	NP_786943.1:n.*116C>A
NR_120480.2:n.1518C>A
NR_157112.2:n.1472C>A