Canonical Allele Identifier: CA6257714
Community Standard Title: NM_001257118.3(CASP1):c.43C>T (p.Arg15Cys)
Gene: CASP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.105034439G>A , CM000673.2:g.105034439G>A GRCh38
NC_000011.9:g.104905166G>A , CM000673.1:g.104905166G>A GRCh37
NC_000011.8:g.104410376G>A NCBI36
NG_029124.1:g.5692C>T
NG_029124.2:g.5692C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001257118.3:c.43C>T MANE Select NP_001244047.1:p.Arg15Cys
ENST00000533400.6:c.43C>T MANE Select ENSP00000433138.1:p.Arg15Cys
NM_001223.4:c.43C>T NP_001214.1:p.Arg15Cys
NM_001223.5:c.43C>T NP_001214.1:p.Arg15Cys
NM_001257118.2:c.43C>T NP_001244047.1:p.Arg15Cys
NM_001257119.2:c.43C>T NP_001244048.1:p.Arg15Cys
NM_001257119.3:c.43C>T NP_001244048.1:p.Arg15Cys
NM_033292.3:c.43C>T NP_150634.1:p.Arg15Cys
NM_033292.4:c.43C>T NP_150634.1:p.Arg15Cys
NM_033293.3:c.43C>T NP_150635.1:p.Arg15Cys
NM_033293.4:c.43C>T NP_150635.1:p.Arg15Cys
NM_033294.3:c.43C>T NP_150636.1:p.Arg15Cys
NM_033294.4:c.43C>T NP_150636.1:p.Arg15Cys
NM_033295.3:c.43C>T NP_150637.1:p.Arg15Cys
NM_033295.4:c.43C>T NP_150637.1:p.Arg15Cys
ENST00000353247.9:c.43C>T ENSP00000344132.5:p.Arg15Cys
ENST00000436863.7:c.43C>T ENSP00000410076.3:p.Arg15Cys
ENST00000446369.5:c.43C>T ENSP00000403260.1:p.Arg15Cys
ENST00000525825.5:c.43C>T ENSP00000434779.1:p.Arg15Cys
ENST00000525825.6:c.43C>T ENSP00000434779.1:p.Arg15Cys
ENST00000526511.5:n.69C>T
ENST00000526511.6:n.73C>T
ENST00000526568.5:c.43C>T ENSP00000434250.1:p.Arg15Cys
ENST00000527979.5:c.-6C>T ENSP00000432340.1:n.-6C>T
ENST00000528974.1:c.-24-51C>T ENSP00000434259.1:n.-24-51C>T
ENST00000529871.1:c.43C>T ENSP00000431947.1:p.Arg15Cys
ENST00000531166.5:c.43C>T ENSP00000434303.1:p.Arg15Cys
ENST00000532520.1:n.73C>T
ENST00000533400.5:c.43C>T ENSP00000433138.1:p.Arg15Cys
ENST00000534497.5:c.43C>T ENSP00000436875.1:p.Arg15Cys
ENST00000640184.1:c.37C>T ENSP00000492493.1:p.Arg13Cys
ENST00000695714.1:c.43C>T ENSP00000512113.1:p.Arg15Cys
ENST00000695715.1:c.-75C>T ENSP00000512114.1:n.-75C>T
ENST00000695716.1:c.43C>T ENSP00000512253.1:p.Arg15Cys
ENST00000695717.1:c.-24-51C>T ENSP00000512115.1:n.-24-51C>T
ENST00000695718.1:c.-24-51C>T ENSP00000512116.1:n.-24-51C>T
ENST00000695719.1:c.43C>T ENSP00000512117.1:p.Arg15Cys
ENST00000695720.1:c.43C>T ENSP00000512118.1:p.Arg15Cys
ENST00000695721.1:c.-24-51C>T ENSP00000512119.1:n.-24-51C>T
ENST00000695722.1:c.-24-51C>T ENSP00000512120.1:n.-24-51C>T
XM_006718924.2:c.226-51C>T XP_006718987.2:n.226-51C>T
XM_011543017.1:c.226-51C>T XP_011541319.1:n.226-51C>T
XM_011543018.1:c.226-51C>T XP_011541320.1:n.226-51C>T
XM_017018393.1:c.85-51C>T XP_016873882.1:n.85-51C>T
XM_017018394.1:c.85-51C>T XP_016873883.1:n.85-51C>T
XM_017018395.1:c.85-51C>T XP_016873884.1:n.85-51C>T
XM_017018396.1:c.4-51C>T XP_016873885.1:n.4-51C>T