Canonical Allele Identifier: CA1997273036
Community Standard Title: NM_001257118.3(CASP1):c.766C= (p.Leu256=)
Gene: CASP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.105029761G= , CM000673.2:g.105029761G= GRCh38
NC_000011.9:g.104900488G= , CM000673.1:g.104900488G= GRCh37
NC_000011.8:g.104405698G= NCBI36
NG_029124.1:g.10370C=
NG_029124.2:g.10370C=

Transcript Alleles

HGVS Amino-acid Change
NM_001257118.3:c.766C= MANE Select NP_001244047.1:p.Leu256=
ENST00000533400.6:c.766C= MANE Select ENSP00000433138.1:p.Leu256=
NM_001223.4:c.703C= NP_001214.1:p.Leu235=
NM_001223.5:c.703C= NP_001214.1:p.Leu235=
NM_001257118.2:c.766C= NP_001244047.1:p.Leu256=
NM_001257119.2:c.703C= NP_001244048.1:p.Leu235=
NM_001257119.3:c.703C= NP_001244048.1:p.Leu235=
NM_033292.3:c.766C= NP_150634.1:p.Leu256=
NM_033292.4:c.766C= NP_150634.1:p.Leu256=
NM_033293.3:c.487C= NP_150635.1:p.Leu163=
NM_033293.4:c.487C= NP_150635.1:p.Leu163=
NM_033294.3:c.487C= NP_150636.1:p.Leu163=
NM_033294.4:c.487C= NP_150636.1:p.Leu163=
NM_033295.3:c.59-2810C= NP_150637.1:n.59-2810C=
NM_033295.4:c.59-2810C= NP_150637.1:n.59-2810C=
ENST00000353247.9:c.59-2810C= ENSP00000344132.5:n.59-2810C=
ENST00000436863.7:c.766C= ENSP00000410076.3:p.Leu256=
ENST00000446369.5:c.487C= ENSP00000403260.1:p.Leu163=
ENST00000525825.5:c.703C= ENSP00000434779.1:p.Leu235=
ENST00000525825.6:c.703C= ENSP00000434779.1:p.Leu235=
ENST00000526568.5:c.487C= ENSP00000434250.1:p.Leu163=
ENST00000527979.5:c.655C= ENSP00000432340.1:p.Leu219=
ENST00000528974.1:c.649C= ENSP00000434259.1:p.Leu217=
ENST00000529871.1:c.*254C= ENSP00000431947.1:n.*254C=
ENST00000531166.5:c.59-2810C= ENSP00000434303.1:n.59-2810C=
ENST00000532439.5:c.313C= ENSP00000435536.1:p.Leu105=
ENST00000532439.6:c.324C=
ENST00000533400.5:c.766C= ENSP00000433138.1:p.Leu256=
ENST00000534497.5:c.487C= ENSP00000436875.1:p.Leu163=
ENST00000695714.1:c.*254C= ENSP00000512113.1:n.*254C=
ENST00000695715.1:c.649C= ENSP00000512114.1:p.Leu217=
ENST00000695716.1:c.*476C= ENSP00000512253.1:n.*476C=
ENST00000695717.1:c.649C= ENSP00000512115.1:p.Leu217=
ENST00000695718.1:c.649C= ENSP00000512116.1:p.Leu217=
ENST00000695719.1:c.703C= ENSP00000512117.1:p.Leu235=
ENST00000695720.1:c.766C= ENSP00000512118.1:p.Leu256=
ENST00000695721.1:c.649C= ENSP00000512119.1:p.Leu217=
ENST00000695722.1:c.649C= ENSP00000512120.1:p.Leu217=
XM_006718924.2:c.898C= XP_006718987.2:p.Leu300=
XM_011543017.1:c.898C= XP_011541319.1:p.Leu300=
XM_011543018.1:c.835C= XP_011541320.1:p.Leu279=
XM_017018393.1:c.757C= XP_016873882.1:p.Leu253=
XM_017018394.1:c.757C= XP_016873883.1:p.Leu253=
XM_017018395.1:c.694C= XP_016873884.1:p.Leu232=
XM_017018396.1:c.676C= XP_016873885.1:p.Leu226=