Canonical Allele Identifier: CA414578238

Gene: AIFM1 RAB33A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130136695G>T , CM000685.2:g.130136695G>T	GRCh38
NC_000023.10:g.129270670G>T , CM000685.1:g.129270670G>T	GRCh37
NC_000023.9:g.129098351G>T	NCBI36
NG_013217.1:g.34139C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004208.4:c.1112C>A (AIFM1) MANE Select	NP_004199.1:p.Ser371Tyr
ENST00000287295.8:c.1112C>A (AIFM1) MANE Select	ENSP00000287295.3:p.Ser371Tyr
NM_001130846.2:c.56C>A (AIFM1)	NP_001124318.1:p.Ser19Tyr
NM_001130846.3:c.95C>A (AIFM1)	NP_001124318.2:p.Ser32Tyr
NM_001130846.4:c.95C>A (AIFM1)	NP_001124318.2:p.Ser32Tyr
NM_001130847.3:c.*340C>A (AIFM1)	NP_001124319.1:n.*340C>A
NM_001130847.4:c.*340C>A (AIFM1)	NP_001124319.1:n.*340C>A
NM_004208.3:c.1112C>A (AIFM1)	NP_004199.1:p.Ser371Tyr
NM_145812.2:c.1100C>A (AIFM1)	NP_665811.1:p.Ser367Tyr
NM_145812.3:c.1100C>A (AIFM1)	NP_665811.1:p.Ser367Tyr
NM_145813.2:c.251C>A (AIFM1)	NP_665812.1:p.Ser84Tyr
NR_132647.1:n.1403C>A (AIFM1)
NR_132647.2:n.1357C>A (AIFM1)
ENST00000287295.7:c.1112C>A (AIFM1)	ENSP00000287295.3:p.Ser371Tyr
ENST00000319908.7:c.1100C>A (AIFM1)	ENSP00000315122.3:p.Ser367Tyr
ENST00000319908.8:c.1109C>A (AIFM1)	ENSP00000315122.4:p.Ser370Tyr
ENST00000346424.6:c.251C>A (AIFM1)	ENSP00000316320.3:p.Ser84Tyr
ENST00000416073.6:c.*340C>A (AIFM1)	ENSP00000402535.2:n.*340C>A
ENST00000416073.7:c.1106C>A (AIFM1)	ENSP00000402535.3:p.Ser369Tyr
ENST00000460436.6:c.95C>A (AIFM1)	ENSP00000431222.1:p.Ser32Tyr
ENST00000527892.5:c.*1040C>A (AIFM1)	ENSP00000435955.1:n.*1040C>A
ENST00000533719.1:n.815C>A (AIFM1)
ENST00000533719.2:n.904C>A (AIFM1)
ENST00000535724.5:c.*340C>A (AIFM1)	ENSP00000446113.2:n.*340C>A
ENST00000535724.6:c.*340C>A (AIFM1)	ENSP00000446113.2:n.*340C>A
ENST00000674546.1:c.1112C>A (AIFM1)	ENSP00000501950.1:p.Ser371Tyr
ENST00000674555.1:c.*847C>A (AIFM1)	ENSP00000502183.1:n.*847C>A
ENST00000674601.1:c.100C>A (AIFM1)
ENST00000674722.1:c.*280C>A (AIFM1)	ENSP00000501693.1:n.*280C>A
ENST00000674957.1:c.813C>A (AIFM1)
ENST00000674997.1:c.969C>A (AIFM1)	ENSP00000502124.1:n.969C>A
ENST00000675015.1:n.994C>A (AIFM1)
ENST00000675037.1:c.1112C>A (AIFM1)	ENSP00000501724.1:p.Ser371Tyr
ENST00000675050.1:c.1100C>A (AIFM1)	ENSP00000502606.1:p.Ser367Tyr
ENST00000675092.1:c.1112C>A (AIFM1)	ENSP00000501772.1:p.Ser371Tyr
ENST00000675111.1:n.1037C>A (AIFM1)
ENST00000675240.1:c.1112C>A (AIFM1)	ENSP00000501907.1:p.Ser371Tyr
ENST00000675427.1:c.1112C>A (AIFM1)	ENSP00000501880.1:p.Ser371Tyr
ENST00000675857.1:c.1106C>A (AIFM1)	ENSP00000502721.1:p.Ser369Tyr
ENST00000676048.1:n.4234C>A (AIFM1)
ENST00000676144.1:c.887C>A (AIFM1)
ENST00000676229.1:c.1100C>A (AIFM1)	ENSP00000502184.1:p.Ser367Tyr
ENST00000676328.1:c.1109C>A (AIFM1)	ENSP00000502068.1:p.Ser370Tyr
ENST00000676436.1:c.1100C>A (AIFM1)	ENSP00000502669.1:p.Ser367Tyr
XM_017029963.2:c.30+19310G>T (RAB33A)	XP_016885452.1:n.30+19310G>T