Canonical Allele Identifier: CA359777921
Community Standard Title: NM_002184.4(IL6ST):c.2513C>T (p.Ser838Leu)
Gene: IL6ST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55941326G>A , CM000667.2:g.55941326G>A GRCh38
NC_000005.9:g.55237154G>A , CM000667.1:g.55237154G>A GRCh37
NC_000005.8:g.55272911G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002184.4:c.2513C>T MANE Select NP_002175.2:p.Ser838Leu
ENST00000381298.7:c.2513C>T MANE Select ENSP00000370698.2:p.Ser838Leu
NM_001190981.1:c.2330C>T NP_001177910.1:p.Ser777Leu
NM_001190981.2:c.2330C>T NP_001177910.1:p.Ser777Leu
NM_001364275.1:c.2411C>T NP_001351204.1:p.Ser804Leu
NM_001364275.2:c.2411C>T NP_001351204.1:p.Ser804Leu
NM_001364276.1:c.2303C>T NP_001351205.1:p.Ser768Leu
NM_001364276.2:c.2303C>T NP_001351205.1:p.Ser768Leu
NM_001364277.1:c.1646C>T NP_001351206.1:p.Ser549Leu
NM_001364277.2:c.1646C>T NP_001351206.1:p.Ser549Leu
NM_001364278.1:c.1610C>T NP_001351207.1:p.Ser537Leu
NM_001364278.2:c.1610C>T NP_001351207.1:p.Ser537Leu
NM_001364279.1:c.1517C>T NP_001351208.1:p.Ser506Leu
NM_001364279.2:c.1517C>T NP_001351208.1:p.Ser506Leu
NM_002184.3:c.2513C>T NP_002175.2:p.Ser838Leu
NM_175767.2:c.*1440C>T NP_786943.1:n.*1440C>T
NM_175767.3:c.*1440C>T NP_786943.1:n.*1440C>T
NR_120480.1:n.2872C>T
NR_120480.2:n.2842C>T
NR_157112.1:n.3677C>T
NR_157112.2:n.3677C>T
ENST00000336909.9:c.2513C>T ENSP00000338799.5:p.Ser838Leu
ENST00000381287.8:c.*1440C>T ENSP00000370687.4:n.*1440C>T
ENST00000381294.7:c.2330C>T ENSP00000370694.3:p.Ser777Leu
ENST00000381294.8:c.2330C>T ENSP00000370694.3:p.Ser777Leu
ENST00000381298.6:c.2513C>T ENSP00000370698.2:p.Ser838Leu
ENST00000502326.7:c.2513C>T ENSP00000462158.1:p.Ser838Leu
ENST00000503773.6:c.*1557C>T ENSP00000426224.2:n.*1557C>T
ENST00000506241.2:n.3854C>T
ENST00000577363.2:c.*1918C>T ENSP00000513861.1:n.*1918C>T
ENST00000651614.1:c.*1465C>T ENSP00000498224.1:n.*1465C>T
ENST00000698638.1:c.1610C>T ENSP00000513851.1:p.Ser537Leu
ENST00000698639.1:c.2366C>T ENSP00000513852.1:p.Ser789Leu
ENST00000698640.1:c.1796C>T ENSP00000513853.1:n.1796C>T
ENST00000698641.1:c.*1735C>T ENSP00000513854.1:n.*1735C>T
ENST00000698642.1:c.*1964C>T ENSP00000513855.1:n.*1964C>T
ENST00000698643.1:c.*1835C>T ENSP00000513856.1:n.*1835C>T
ENST00000698644.1:c.2303C>T ENSP00000513857.1:p.Ser768Leu
ENST00000698645.1:c.2513C>T ENSP00000513858.1:p.Ser838Leu
ENST00000698646.1:c.2411C>T ENSP00000513859.1:p.Ser804Leu
ENST00000698647.1:c.*2132C>T ENSP00000513860.1:n.*2132C>T
ENST00000698648.1:c.*1918C>T ENSP00000513862.1:n.*1918C>T
ENST00000698649.1:n.1515C>T