Canonical Allele Identifier: CA414579884

Gene: AIFM1 RAB33A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130137147C>T , CM000685.2:g.130137147C>T	GRCh38
NC_000023.10:g.129271122C>T , CM000685.1:g.129271122C>T	GRCh37
NC_000023.9:g.129098803C>T	NCBI36
NG_013217.1:g.33687G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004208.4:c.1006G>A (AIFM1) MANE Select	NP_004199.1:p.Glu336Lys
ENST00000287295.8:c.1006G>A (AIFM1) MANE Select	ENSP00000287295.3:p.Glu336Lys
NM_001130846.2:c.-51G>A (AIFM1)	NP_001124318.1:n.-51G>A
NM_001130846.3:c.-12G>A (AIFM1)	NP_001124318.2:n.-12G>A
NM_001130846.4:c.-12G>A (AIFM1)	NP_001124318.2:n.-12G>A
NM_001130847.3:c.*234G>A (AIFM1)	NP_001124319.1:n.*234G>A
NM_001130847.4:c.*234G>A (AIFM1)	NP_001124319.1:n.*234G>A
NM_004208.3:c.1006G>A (AIFM1)	NP_004199.1:p.Glu336Lys
NM_145812.2:c.994G>A (AIFM1)	NP_665811.1:p.Glu332Lys
NM_145812.3:c.994G>A (AIFM1)	NP_665811.1:p.Glu332Lys
NM_145813.2:c.145G>A (AIFM1)	NP_665812.1:p.Glu49Lys
NR_132647.1:n.1297G>A (AIFM1)
NR_132647.2:n.1251G>A (AIFM1)
ENST00000287295.7:c.1006G>A (AIFM1)	ENSP00000287295.3:p.Glu336Lys
ENST00000319908.7:c.994G>A (AIFM1)	ENSP00000315122.3:p.Glu332Lys
ENST00000319908.8:c.1003G>A (AIFM1)	ENSP00000315122.4:p.Glu335Lys
ENST00000346424.6:c.145G>A (AIFM1)	ENSP00000316320.3:p.Glu49Lys
ENST00000416073.6:c.*234G>A (AIFM1)	ENSP00000402535.2:n.*234G>A
ENST00000416073.7:c.1000G>A (AIFM1)	ENSP00000402535.3:p.Glu334Lys
ENST00000460436.6:c.-12G>A (AIFM1)	ENSP00000431222.1:n.-12G>A
ENST00000527892.5:c.*934G>A (AIFM1)	ENSP00000435955.1:n.*934G>A
ENST00000533719.1:n.709G>A (AIFM1)
ENST00000533719.2:n.798G>A (AIFM1)
ENST00000535724.5:c.*234G>A (AIFM1)	ENSP00000446113.2:n.*234G>A
ENST00000535724.6:c.*234G>A (AIFM1)	ENSP00000446113.2:n.*234G>A
ENST00000674546.1:c.1006G>A (AIFM1)	ENSP00000501950.1:p.Glu336Lys
ENST00000674555.1:c.*741G>A (AIFM1)	ENSP00000502183.1:n.*741G>A
ENST00000674722.1:c.*174G>A (AIFM1)	ENSP00000501693.1:n.*174G>A
ENST00000674957.1:c.707G>A (AIFM1)
ENST00000674997.1:c.863G>A (AIFM1)	ENSP00000502124.1:n.863G>A
ENST00000675015.1:n.888G>A (AIFM1)
ENST00000675037.1:c.1006G>A (AIFM1)	ENSP00000501724.1:p.Glu336Lys
ENST00000675050.1:c.994G>A (AIFM1)	ENSP00000502606.1:p.Glu332Lys
ENST00000675092.1:c.1006G>A (AIFM1)	ENSP00000501772.1:p.Glu336Lys
ENST00000675111.1:n.931G>A (AIFM1)
ENST00000675240.1:c.1006G>A (AIFM1)	ENSP00000501907.1:p.Glu336Lys
ENST00000675427.1:c.1006G>A (AIFM1)	ENSP00000501880.1:p.Glu336Lys
ENST00000675857.1:c.1000G>A (AIFM1)	ENSP00000502721.1:p.Glu334Lys
ENST00000676048.1:n.4128G>A (AIFM1)
ENST00000676144.1:c.781G>A (AIFM1)
ENST00000676229.1:c.994G>A (AIFM1)	ENSP00000502184.1:p.Glu332Lys
ENST00000676328.1:c.1003G>A (AIFM1)	ENSP00000502068.1:p.Glu335Lys
ENST00000676436.1:c.994G>A (AIFM1)	ENSP00000502669.1:p.Glu332Lys
XM_017029963.2:c.30+19762C>T (RAB33A)	XP_016885452.1:n.30+19762C>T