Canonical Allele Identifier: CA6257674

Gene: CASP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.105034225G>A , CM000673.2:g.105034225G>A	GRCh38
NC_000011.9:g.104904952G>A , CM000673.1:g.104904952G>A	GRCh37
NC_000011.8:g.104410162G>A	NCBI36
NG_029124.1:g.5906C>T
NG_029124.2:g.5906C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001257118.3:c.257C>T MANE Select	NP_001244047.1:p.Thr86Met
ENST00000533400.6:c.257C>T MANE Select	ENSP00000433138.1:p.Thr86Met
NM_001223.4:c.257C>T	NP_001214.1:p.Thr86Met
NM_001223.5:c.257C>T	NP_001214.1:p.Thr86Met
NM_001257118.2:c.257C>T	NP_001244047.1:p.Thr86Met
NM_001257119.2:c.257C>T	NP_001244048.1:p.Thr86Met
NM_001257119.3:c.257C>T	NP_001244048.1:p.Thr86Met
NM_033292.3:c.257C>T	NP_150634.1:p.Thr86Met
NM_033292.4:c.257C>T	NP_150634.1:p.Thr86Met
NM_033293.3:c.58+199C>T	NP_150635.1:n.58+199C>T
NM_033293.4:c.58+199C>T	NP_150635.1:n.58+199C>T
NM_033294.3:c.58+199C>T	NP_150636.1:n.58+199C>T
NM_033294.4:c.58+199C>T	NP_150636.1:n.58+199C>T
NM_033295.3:c.58+199C>T	NP_150637.1:n.58+199C>T
NM_033295.4:c.58+199C>T	NP_150637.1:n.58+199C>T
ENST00000353247.9:c.58+199C>T	ENSP00000344132.5:n.58+199C>T
ENST00000436863.7:c.257C>T	ENSP00000410076.3:p.Thr86Met
ENST00000446369.5:c.58+199C>T	ENSP00000403260.1:n.58+199C>T
ENST00000525825.5:c.257C>T	ENSP00000434779.1:p.Thr86Met
ENST00000525825.6:c.257C>T	ENSP00000434779.1:p.Thr86Met
ENST00000526511.5:n.283C>T
ENST00000526511.6:n.287C>T
ENST00000526568.5:c.58+199C>T	ENSP00000434250.1:n.58+199C>T
ENST00000527979.5:c.209C>T	ENSP00000432340.1:p.Thr70Met
ENST00000528424.1:n.134C>T
ENST00000528974.1:c.140C>T	ENSP00000434259.1:p.Thr47Met
ENST00000529871.1:c.257C>T	ENSP00000431947.1:p.Thr86Met
ENST00000531166.5:c.58+199C>T	ENSP00000434303.1:n.58+199C>T
ENST00000532520.1:n.287C>T
ENST00000533400.5:c.257C>T	ENSP00000433138.1:p.Thr86Met
ENST00000534497.5:c.58+199C>T	ENSP00000436875.1:n.58+199C>T
ENST00000640184.1:c.251C>T	ENSP00000492493.1:p.Thr84Met
ENST00000695714.1:c.257C>T	ENSP00000512113.1:p.Thr86Met
ENST00000695715.1:c.140C>T	ENSP00000512114.1:p.Thr47Met
ENST00000695716.1:c.257C>T	ENSP00000512253.1:p.Thr86Met
ENST00000695717.1:c.140C>T	ENSP00000512115.1:p.Thr47Met
ENST00000695718.1:c.140C>T	ENSP00000512116.1:p.Thr47Met
ENST00000695719.1:c.257C>T	ENSP00000512117.1:p.Thr86Met
ENST00000695720.1:c.257C>T	ENSP00000512118.1:p.Thr86Met
ENST00000695721.1:c.140C>T	ENSP00000512119.1:p.Thr47Met
ENST00000695722.1:c.140C>T	ENSP00000512120.1:p.Thr47Met
XM_006718924.2:c.389C>T	XP_006718987.2:p.Thr130Met
XM_011543017.1:c.389C>T	XP_011541319.1:p.Thr130Met
XM_011543018.1:c.389C>T	XP_011541320.1:p.Thr130Met
XM_017018393.1:c.248C>T	XP_016873882.1:p.Thr83Met
XM_017018394.1:c.248C>T	XP_016873883.1:p.Thr83Met
XM_017018395.1:c.248C>T	XP_016873884.1:p.Thr83Met
XM_017018396.1:c.167C>T	XP_016873885.1:p.Thr56Met