Canonical Allele Identifier: CA518468957

Gene: AIFM1 RAB33A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130136646C>T , CM000685.2:g.130136646C>T	GRCh38
NC_000023.10:g.129270621C>T , CM000685.1:g.129270621C>T	GRCh37
NC_000023.9:g.129098302C>T	NCBI36
NG_013217.1:g.34188G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004208.4:c.1161G>A (AIFM1) MANE Select	NP_004199.1:p.Arg387=
ENST00000287295.8:c.1161G>A (AIFM1) MANE Select	ENSP00000287295.3:p.Arg387=
NM_001130846.2:c.105G>A (AIFM1)	NP_001124318.1:p.Arg35=
NM_001130846.3:c.144G>A (AIFM1)	NP_001124318.2:p.Arg48=
NM_001130846.4:c.144G>A (AIFM1)	NP_001124318.2:p.Arg48=
NM_001130847.3:c.*389G>A (AIFM1)	NP_001124319.1:n.*389G>A
NM_001130847.4:c.*389G>A (AIFM1)	NP_001124319.1:n.*389G>A
NM_004208.3:c.1161G>A (AIFM1)	NP_004199.1:p.Arg387=
NM_145812.2:c.1149G>A (AIFM1)	NP_665811.1:p.Arg383=
NM_145812.3:c.1149G>A (AIFM1)	NP_665811.1:p.Arg383=
NM_145813.2:c.300G>A (AIFM1)	NP_665812.1:p.Arg100=
NR_132647.1:n.1452G>A (AIFM1)
NR_132647.2:n.1406G>A (AIFM1)
ENST00000287295.7:c.1161G>A (AIFM1)	ENSP00000287295.3:p.Arg387=
ENST00000319908.7:c.1149G>A (AIFM1)	ENSP00000315122.3:p.Arg383=
ENST00000319908.8:c.1158G>A (AIFM1)	ENSP00000315122.4:p.Arg386=
ENST00000346424.6:c.300G>A (AIFM1)	ENSP00000316320.3:p.Arg100=
ENST00000416073.6:c.*389G>A (AIFM1)	ENSP00000402535.2:n.*389G>A
ENST00000416073.7:c.1155G>A (AIFM1)	ENSP00000402535.3:p.Arg385=
ENST00000460436.6:c.144G>A (AIFM1)	ENSP00000431222.1:p.Arg48=
ENST00000527892.5:c.*1089G>A (AIFM1)	ENSP00000435955.1:n.*1089G>A
ENST00000533719.2:n.953G>A (AIFM1)
ENST00000535724.5:c.*389G>A (AIFM1)	ENSP00000446113.2:n.*389G>A
ENST00000535724.6:c.*389G>A (AIFM1)	ENSP00000446113.2:n.*389G>A
ENST00000674546.1:c.1161G>A (AIFM1)	ENSP00000501950.1:p.Arg387=
ENST00000674555.1:c.*896G>A (AIFM1)	ENSP00000502183.1:n.*896G>A
ENST00000674601.1:c.149G>A (AIFM1)
ENST00000674722.1:c.*329G>A (AIFM1)	ENSP00000501693.1:n.*329G>A
ENST00000674957.1:c.862G>A (AIFM1)
ENST00000674997.1:c.1018G>A (AIFM1)	ENSP00000502124.1:n.1018G>A
ENST00000675015.1:n.1043G>A (AIFM1)
ENST00000675037.1:c.1161G>A (AIFM1)	ENSP00000501724.1:p.Arg387=
ENST00000675050.1:c.1149G>A (AIFM1)	ENSP00000502606.1:p.Arg383=
ENST00000675092.1:c.1161G>A (AIFM1)	ENSP00000501772.1:p.Arg387=
ENST00000675111.1:n.1086G>A (AIFM1)
ENST00000675240.1:c.1161G>A (AIFM1)	ENSP00000501907.1:p.Arg387=
ENST00000675427.1:c.1161G>A (AIFM1)	ENSP00000501880.1:p.Arg387=
ENST00000675857.1:c.1155G>A (AIFM1)	ENSP00000502721.1:p.Arg385=
ENST00000676048.1:n.4283G>A (AIFM1)
ENST00000676229.1:c.1149G>A (AIFM1)	ENSP00000502184.1:p.Arg383=
ENST00000676328.1:c.1158G>A (AIFM1)	ENSP00000502068.1:p.Arg386=
ENST00000676436.1:c.1149G>A (AIFM1)	ENSP00000502669.1:p.Arg383=
XM_017029963.2:c.30+19261C>T (RAB33A)	XP_016885452.1:n.30+19261C>T