Canonical Allele Identifier: CA6257417

Gene: CASP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.105029146G>A , CM000673.2:g.105029146G>A	GRCh38
NC_000011.9:g.104899873G>A , CM000673.1:g.104899873G>A	GRCh37
NC_000011.8:g.104405083G>A	NCBI36
NG_029124.1:g.10985C>T
NG_029124.2:g.10985C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001257118.3:c.984C>T MANE Select	NP_001244047.1:p.Ile328=
ENST00000533400.6:c.984C>T MANE Select	ENSP00000433138.1:p.Ile328=
NM_001223.4:c.921C>T	NP_001214.1:p.Ile307=
NM_001223.5:c.921C>T	NP_001214.1:p.Ile307=
NM_001257118.2:c.984C>T	NP_001244047.1:p.Ile328=
NM_001257119.2:c.921C>T	NP_001244048.1:p.Ile307=
NM_001257119.3:c.921C>T	NP_001244048.1:p.Ile307=
NM_033292.3:c.984C>T	NP_150634.1:p.Ile328=
NM_033292.4:c.984C>T	NP_150634.1:p.Ile328=
NM_033293.3:c.705C>T	NP_150635.1:p.Ile235=
NM_033293.4:c.705C>T	NP_150635.1:p.Ile235=
NM_033294.3:c.583+519C>T	NP_150636.1:n.583+519C>T
NM_033294.4:c.583+519C>T	NP_150636.1:n.583+519C>T
NM_033295.3:c.59-2195C>T	NP_150637.1:n.59-2195C>T
NM_033295.4:c.59-2195C>T	NP_150637.1:n.59-2195C>T
ENST00000353247.9:c.59-2195C>T	ENSP00000344132.5:n.59-2195C>T
ENST00000436863.7:c.984C>T	ENSP00000410076.3:p.Ile328=
ENST00000446369.5:c.583+519C>T	ENSP00000403260.1:n.583+519C>T
ENST00000525825.5:c.921C>T	ENSP00000434779.1:p.Ile307=
ENST00000525825.6:c.921C>T	ENSP00000434779.1:p.Ile307=
ENST00000526568.5:c.705C>T	ENSP00000434250.1:p.Ile235=
ENST00000527979.5:c.873C>T	ENSP00000432340.1:p.Ile291=
ENST00000528974.1:c.867C>T	ENSP00000434259.1:p.Ile289=
ENST00000529871.1:c.*472C>T	ENSP00000431947.1:n.*472C>T
ENST00000531166.5:c.59-2195C>T	ENSP00000434303.1:n.59-2195C>T
ENST00000532439.5:c.531C>T	ENSP00000435536.1:p.Ile177=
ENST00000532439.6:c.542C>T
ENST00000533400.5:c.984C>T	ENSP00000433138.1:p.Ile328=
ENST00000534497.5:c.583+519C>T	ENSP00000436875.1:n.583+519C>T
ENST00000695714.1:c.*472C>T	ENSP00000512113.1:n.*472C>T
ENST00000695715.1:c.867C>T	ENSP00000512114.1:p.Ile289=
ENST00000695716.1:c.*694C>T	ENSP00000512253.1:n.*694C>T
ENST00000695717.1:c.867C>T	ENSP00000512115.1:p.Ile289=
ENST00000695718.1:c.867C>T	ENSP00000512116.1:p.Ile289=
ENST00000695719.1:c.921C>T	ENSP00000512117.1:p.Ile307=
ENST00000695720.1:c.984C>T	ENSP00000512118.1:p.Ile328=
ENST00000695721.1:c.867C>T	ENSP00000512119.1:p.Ile289=
ENST00000695722.1:c.867C>T	ENSP00000512120.1:p.Ile289=
XM_006718924.2:c.1116C>T	XP_006718987.2:p.Ile372=
XM_011543017.1:c.1116C>T	XP_011541319.1:p.Ile372=
XM_011543018.1:c.1053C>T	XP_011541320.1:p.Ile351=
XM_017018393.1:c.975C>T	XP_016873882.1:p.Ile325=
XM_017018394.1:c.975C>T	XP_016873883.1:p.Ile325=
XM_017018395.1:c.912C>T	XP_016873884.1:p.Ile304=
XM_017018396.1:c.894C>T	XP_016873885.1:p.Ile298=