Canonical Allele Identifier: CA2615775268

Gene: CASP1

Linked Data

• gnomAD v4: 11-105027198-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.105027198C>A , CM000673.2:g.105027198C>A	GRCh38
NC_000011.9:g.104897925C>A , CM000673.1:g.104897925C>A	GRCh37
NC_000011.8:g.104403135C>A	NCBI36
NG_029124.1:g.12933G>T
NG_029124.2:g.12933G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525825.6:c.944-247G>T	ENSP00000434779.1:n.944-247G>T
ENST00000532439.6:c.565-247G>T
ENST00000695714.1:c.*495-247G>T	ENSP00000512113.1:n.*495-247G>T
ENST00000695715.1:c.890-247G>T	ENSP00000512114.1:n.890-247G>T
ENST00000695716.1:c.*717-247G>T	ENSP00000512253.1:n.*717-247G>T
ENST00000695717.1:c.890-247G>T	ENSP00000512115.1:n.890-247G>T
ENST00000695718.1:c.890-247G>T	ENSP00000512116.1:n.890-247G>T
ENST00000695719.1:c.944-247G>T	ENSP00000512117.1:n.944-247G>T
ENST00000695720.1:c.1007-247G>T	ENSP00000512118.1:n.1007-247G>T
ENST00000695721.1:c.890-247G>T	ENSP00000512119.1:n.890-247G>T
ENST00000695722.1:c.890-247G>T	ENSP00000512120.1:n.890-247G>T
ENST00000533400.6:c.1007-247G>T MANE Select	ENSP00000433138.1:n.1007-247G>T
ENST00000353247.9:c.59-247G>T	ENSP00000344132.5:n.59-247G>T
ENST00000436863.7:c.1007-247G>T	ENSP00000410076.3:n.1007-247G>T
ENST00000446369.5:c.584-247G>T	ENSP00000403260.1:n.584-247G>T
ENST00000525825.5:c.944-247G>T	ENSP00000434779.1:n.944-247G>T
ENST00000526568.5:c.728-247G>T	ENSP00000434250.1:n.728-247G>T
ENST00000527979.5:c.896-247G>T	ENSP00000432340.1:n.896-247G>T
ENST00000528974.1:c.890-205G>T	ENSP00000434259.1:n.890-205G>T
ENST00000529871.1:c.*495-247G>T	ENSP00000431947.1:n.*495-247G>T
ENST00000531166.5:c.59-247G>T	ENSP00000434303.1:n.59-247G>T
ENST00000532439.5:c.554-247G>T	ENSP00000435536.1:n.554-247G>T
ENST00000533400.5:c.1007-247G>T	ENSP00000433138.1:n.1007-247G>T
ENST00000534497.5:c.584-247G>T	ENSP00000436875.1:n.584-247G>T
NM_001223.4:c.944-247G>T	NP_001214.1:n.944-247G>T
NM_001257118.2:c.1007-247G>T	NP_001244047.1:n.1007-247G>T
NM_001257119.2:c.944-247G>T	NP_001244048.1:n.944-247G>T
NM_033292.3:c.1007-247G>T	NP_150634.1:n.1007-247G>T
NM_033293.3:c.728-247G>T	NP_150635.1:n.728-247G>T
NM_033294.3:c.584-247G>T	NP_150636.1:n.584-247G>T
NM_033295.3:c.59-247G>T	NP_150637.1:n.59-247G>T
XM_006718924.2:c.1139-247G>T	XP_006718987.2:n.1139-247G>T
XM_011543017.1:c.1139-247G>T	XP_011541319.1:n.1139-247G>T
XM_011543018.1:c.1076-247G>T	XP_011541320.1:n.1076-247G>T
XM_017018393.1:c.998-247G>T	XP_016873882.1:n.998-247G>T
XM_017018394.1:c.998-247G>T	XP_016873883.1:n.998-247G>T
XM_017018395.1:c.935-247G>T	XP_016873884.1:n.935-247G>T
XM_017018396.1:c.917-247G>T	XP_016873885.1:n.917-247G>T
NM_001257118.3:c.1007-247G>T MANE Select	NP_001244047.1:n.1007-247G>T
NM_001223.5:c.944-247G>T	NP_001214.1:n.944-247G>T
NM_001257119.3:c.944-247G>T	NP_001244048.1:n.944-247G>T
NM_033292.4:c.1007-247G>T	NP_150634.1:n.1007-247G>T
NM_033293.4:c.728-247G>T	NP_150635.1:n.728-247G>T
NM_033294.4:c.584-247G>T	NP_150636.1:n.584-247G>T
NM_033295.4:c.59-247G>T	NP_150637.1:n.59-247G>T