Canonical Allele Identifier: CA6257586

Gene: CASP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.105031247G>C , CM000673.2:g.105031247G>C	GRCh38
NC_000011.9:g.104901974G>C , CM000673.1:g.104901974G>C	GRCh37
NC_000011.8:g.104407184G>C	NCBI36
NG_029124.1:g.8884C>G
NG_029124.2:g.8884C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001257118.3:c.371C>G MANE Select	NP_001244047.1:p.Pro124Arg
ENST00000533400.6:c.371C>G MANE Select	ENSP00000433138.1:p.Pro124Arg
NM_001223.4:c.308C>G	NP_001214.1:p.Pro103Arg
NM_001223.5:c.308C>G	NP_001214.1:p.Pro103Arg
NM_001257118.2:c.371C>G	NP_001244047.1:p.Pro124Arg
NM_001257119.2:c.308C>G	NP_001244048.1:p.Pro103Arg
NM_001257119.3:c.308C>G	NP_001244048.1:p.Pro103Arg
NM_033292.3:c.371C>G	NP_150634.1:p.Pro124Arg
NM_033292.4:c.371C>G	NP_150634.1:p.Pro124Arg
NM_033293.3:c.92C>G	NP_150635.1:p.Pro31Arg
NM_033293.4:c.92C>G	NP_150635.1:p.Pro31Arg
NM_033294.3:c.92C>G	NP_150636.1:p.Pro31Arg
NM_033294.4:c.92C>G	NP_150636.1:p.Pro31Arg
NM_033295.3:c.58+3177C>G	NP_150637.1:n.58+3177C>G
NM_033295.4:c.58+3177C>G	NP_150637.1:n.58+3177C>G
ENST00000353247.9:c.58+3177C>G	ENSP00000344132.5:n.58+3177C>G
ENST00000436863.7:c.371C>G	ENSP00000410076.3:p.Pro124Arg
ENST00000446369.5:c.92C>G	ENSP00000403260.1:p.Pro31Arg
ENST00000525825.5:c.308C>G	ENSP00000434779.1:p.Pro103Arg
ENST00000525825.6:c.308C>G	ENSP00000434779.1:p.Pro103Arg
ENST00000526511.5:n.397C>G
ENST00000526511.6:n.401C>G
ENST00000526568.5:c.92C>G	ENSP00000434250.1:p.Pro31Arg
ENST00000527979.5:c.260C>G	ENSP00000432340.1:p.Pro87Arg
ENST00000528424.1:n.185C>G
ENST00000528974.1:c.254C>G	ENSP00000434259.1:p.Pro85Arg
ENST00000529871.1:c.275-744C>G	ENSP00000431947.1:n.275-744C>G
ENST00000531166.5:c.58+3177C>G	ENSP00000434303.1:n.58+3177C>G
ENST00000532520.1:n.401C>G
ENST00000533400.5:c.371C>G	ENSP00000433138.1:p.Pro124Arg
ENST00000534497.5:c.92C>G	ENSP00000436875.1:p.Pro31Arg
ENST00000640184.1:c.269-744C>G	ENSP00000492493.1:n.269-744C>G
ENST00000695714.1:c.275-744C>G	ENSP00000512113.1:n.275-744C>G
ENST00000695715.1:c.254C>G	ENSP00000512114.1:p.Pro85Arg
ENST00000695716.1:c.371C>G	ENSP00000512253.1:p.Pro124Arg
ENST00000695717.1:c.254C>G	ENSP00000512115.1:p.Pro85Arg
ENST00000695718.1:c.254C>G	ENSP00000512116.1:p.Pro85Arg
ENST00000695719.1:c.308C>G	ENSP00000512117.1:p.Pro103Arg
ENST00000695720.1:c.371C>G	ENSP00000512118.1:p.Pro124Arg
ENST00000695721.1:c.254C>G	ENSP00000512119.1:p.Pro85Arg
ENST00000695722.1:c.254C>G	ENSP00000512120.1:p.Pro85Arg
XM_006718924.2:c.503C>G	XP_006718987.2:p.Pro168Arg
XM_011543017.1:c.503C>G	XP_011541319.1:p.Pro168Arg
XM_011543018.1:c.440C>G	XP_011541320.1:p.Pro147Arg
XM_017018393.1:c.362C>G	XP_016873882.1:p.Pro121Arg
XM_017018394.1:c.362C>G	XP_016873883.1:p.Pro121Arg
XM_017018395.1:c.299C>G	XP_016873884.1:p.Pro100Arg
XM_017018396.1:c.281C>G	XP_016873885.1:p.Pro94Arg