Canonical Allele Identifier: CA414581092

Gene: AIFM1 RAB33A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130138637C>T , CM000685.2:g.130138637C>T	GRCh38
NC_000023.10:g.129272612C>T , CM000685.1:g.129272612C>T	GRCh37
NC_000023.9:g.129100293C>T	NCBI36
NG_013217.1:g.32197G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004208.4:c.923G>A (AIFM1) MANE Select	NP_004199.1:p.Gly308Glu
ENST00000287295.8:c.923G>A (AIFM1) MANE Select	ENSP00000287295.3:p.Gly308Glu
NM_001130847.3:c.923G>A (AIFM1)	NP_001124319.1:p.Gly308Glu
NM_001130847.4:c.923G>A (AIFM1)	NP_001124319.1:p.Gly308Glu
NM_004208.3:c.923G>A (AIFM1)	NP_004199.1:p.Gly308Glu
NM_145812.2:c.911G>A (AIFM1)	NP_665811.1:p.Gly304Glu
NM_145812.3:c.911G>A (AIFM1)	NP_665811.1:p.Gly304Glu
NM_145813.2:c.107-1452G>A (AIFM1)	NP_665812.1:n.107-1452G>A
NR_132647.1:n.1011G>A (AIFM1)
NR_132647.2:n.965G>A (AIFM1)
ENST00000287295.7:c.923G>A (AIFM1)	ENSP00000287295.3:p.Gly308Glu
ENST00000319908.7:c.911G>A (AIFM1)	ENSP00000315122.3:p.Gly304Glu
ENST00000319908.8:c.920G>A (AIFM1)	ENSP00000315122.4:p.Gly307Glu
ENST00000346424.6:c.107-1452G>A (AIFM1)	ENSP00000316320.3:n.107-1452G>A
ENST00000416073.6:c.923G>A (AIFM1)	ENSP00000402535.2:p.Gly308Glu
ENST00000416073.7:c.917G>A (AIFM1)	ENSP00000402535.3:p.Gly306Glu
ENST00000527892.5:c.*648G>A (AIFM1)	ENSP00000435955.1:n.*648G>A
ENST00000533719.1:n.626G>A (AIFM1)
ENST00000533719.2:n.715G>A (AIFM1)
ENST00000535724.5:c.923G>A (AIFM1)	ENSP00000446113.2:p.Gly308Glu
ENST00000535724.6:c.923G>A (AIFM1)	ENSP00000446113.2:p.Gly308Glu
ENST00000674546.1:c.923G>A (AIFM1)	ENSP00000501950.1:p.Gly308Glu
ENST00000674555.1:c.*658G>A (AIFM1)	ENSP00000502183.1:n.*658G>A
ENST00000674722.1:c.*91G>A (AIFM1)	ENSP00000501693.1:n.*91G>A
ENST00000674957.1:c.624G>A (AIFM1)
ENST00000674997.1:c.780G>A (AIFM1)	ENSP00000502124.1:n.780G>A
ENST00000675037.1:c.923G>A (AIFM1)	ENSP00000501724.1:p.Gly308Glu
ENST00000675050.1:c.911G>A (AIFM1)	ENSP00000502606.1:p.Gly304Glu
ENST00000675092.1:c.923G>A (AIFM1)	ENSP00000501772.1:p.Gly308Glu
ENST00000675111.1:n.848G>A (AIFM1)
ENST00000675240.1:c.923G>A (AIFM1)	ENSP00000501907.1:p.Gly308Glu
ENST00000675427.1:c.923G>A (AIFM1)	ENSP00000501880.1:p.Gly308Glu
ENST00000675774.1:c.*707G>A (AIFM1)	ENSP00000502690.1:n.*707G>A
ENST00000675857.1:c.917G>A (AIFM1)	ENSP00000502721.1:p.Gly306Glu
ENST00000676048.1:n.4045G>A (AIFM1)
ENST00000676144.1:c.698G>A (AIFM1)
ENST00000676229.1:c.911G>A (AIFM1)	ENSP00000502184.1:p.Gly304Glu
ENST00000676328.1:c.920G>A (AIFM1)	ENSP00000502068.1:p.Gly307Glu
ENST00000676436.1:c.917G>A (AIFM1)	ENSP00000502669.1:p.Gly306Glu
XM_017029963.2:c.30+21252C>T (RAB33A)	XP_016885452.1:n.30+21252C>T