Canonical Allele Identifier: CA320452

Gene: AIFM1 RAB33A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130147774C>T , CM000685.2:g.130147774C>T	GRCh38
NC_000023.10:g.129281749C>T , CM000685.1:g.129281749C>T	GRCh37
NC_000023.9:g.129109430C>T	NCBI36
NG_013217.1:g.23060G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.452G>A (AIFM1) MANE Select	ENSP00000287295.3:p.Arg151Gln
ENST00000319908.8:c.452G>A (AIFM1)	ENSP00000315122.4:p.Arg151Gln
ENST00000416073.7:c.446G>A (AIFM1)	ENSP00000402535.3:p.Arg149Gln
ENST00000533719.2:n.244G>A (AIFM1)
ENST00000535724.6:c.452G>A (AIFM1)	ENSP00000446113.2:p.Arg151Gln
ENST00000674546.1:c.452G>A (AIFM1)	ENSP00000501950.1:p.Arg151Gln
ENST00000674555.1:c.*187G>A (AIFM1)	ENSP00000502183.1:n.*187G>A
ENST00000674722.1:c.452G>A (AIFM1)	ENSP00000501693.1:p.Arg151Gln
ENST00000674957.1:c.153G>A (AIFM1)
ENST00000674997.1:c.309G>A (AIFM1)	ENSP00000502124.1:n.309G>A
ENST00000675037.1:c.452G>A (AIFM1)	ENSP00000501724.1:p.Arg151Gln
ENST00000675050.1:c.440G>A (AIFM1)	ENSP00000502606.1:p.Arg147Gln
ENST00000675092.1:c.452G>A (AIFM1)	ENSP00000501772.1:p.Arg151Gln
ENST00000675111.1:n.377G>A (AIFM1)
ENST00000675240.1:c.452G>A (AIFM1)	ENSP00000501907.1:p.Arg151Gln
ENST00000675427.1:c.452G>A (AIFM1)	ENSP00000501880.1:p.Arg151Gln
ENST00000675774.1:c.*236G>A (AIFM1)	ENSP00000502690.1:n.*236G>A
ENST00000675857.1:c.446G>A (AIFM1)	ENSP00000502721.1:p.Arg149Gln
ENST00000676048.1:n.3574G>A (AIFM1)
ENST00000676144.1:c.227G>A (AIFM1)
ENST00000676229.1:c.440G>A (AIFM1)	ENSP00000502184.1:p.Arg147Gln
ENST00000676328.1:c.452G>A (AIFM1)	ENSP00000502068.1:p.Arg151Gln
ENST00000676436.1:c.446G>A (AIFM1)	ENSP00000502669.1:p.Arg149Gln
ENST00000287295.7:c.452G>A (AIFM1)	ENSP00000287295.3:p.Arg151Gln
ENST00000319908.7:c.440G>A (AIFM1)	ENSP00000315122.3:p.Arg147Gln
ENST00000346424.6:c.107-10589G>A (AIFM1)	ENSP00000316320.3:n.107-10589G>A
ENST00000416073.6:c.452G>A (AIFM1)	ENSP00000402535.2:p.Arg151Gln
ENST00000527892.5:c.*177G>A (AIFM1)	ENSP00000435955.1:n.*177G>A
ENST00000529877.1:c.*313G>A (AIFM1)	ENSP00000432998.1:n.*313G>A
ENST00000533719.1:n.155G>A (AIFM1)
ENST00000535724.5:c.452G>A (AIFM1)	ENSP00000446113.2:p.Arg151Gln
NM_001130847.3:c.452G>A (AIFM1)	NP_001124319.1:p.Arg151Gln
NM_004208.3:c.452G>A (AIFM1)	NP_004199.1:p.Arg151Gln
NM_145812.2:c.440G>A (AIFM1)	NP_665811.1:p.Arg147Gln
NM_145813.2:c.107-10589G>A (AIFM1)	NP_665812.1:n.107-10589G>A
NR_132647.1:n.540G>A (AIFM1)
XM_017029963.2:c.30+30389C>T (RAB33A)	XP_016885452.1:n.30+30389C>T
NM_004208.4:c.452G>A (AIFM1) MANE Select	NP_004199.1:p.Arg151Gln
NM_001130847.4:c.452G>A (AIFM1)	NP_001124319.1:p.Arg151Gln
NM_145812.3:c.440G>A (AIFM1)	NP_665811.1:p.Arg147Gln
NR_132647.2:n.494G>A (AIFM1)