Canonical Allele Identifier: CA414582367

Gene: AIFM1 RAB33A

Linked Data

• MyVariant Identifiers: chrX:g.129273800C>A (hg19) ; chrX:g.130139825C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130139825C>A , CM000685.2:g.130139825C>A	GRCh38
NC_000023.10:g.129273800C>A , CM000685.1:g.129273800C>A	GRCh37
NC_000023.9:g.129101481C>A	NCBI36
NG_013217.1:g.31009G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.828G>T (AIFM1) MANE Select	ENSP00000287295.3:p.Glu276Asp
ENST00000319908.8:c.825G>T (AIFM1)	ENSP00000315122.4:p.Glu275Asp
ENST00000416073.7:c.822G>T (AIFM1)	ENSP00000402535.3:p.Glu274Asp
ENST00000533719.2:n.620G>T (AIFM1)
ENST00000535724.6:c.828G>T (AIFM1)	ENSP00000446113.2:p.Glu276Asp
ENST00000674546.1:c.828G>T (AIFM1)	ENSP00000501950.1:p.Glu276Asp
ENST00000674555.1:c.*563G>T (AIFM1)	ENSP00000502183.1:n.*563G>T
ENST00000674722.1:c.743G>T (AIFM1)	ENSP00000501693.1:p.Arg248Met
ENST00000674957.1:c.529G>T (AIFM1)
ENST00000674997.1:c.685G>T (AIFM1)	ENSP00000502124.1:n.685G>T
ENST00000675037.1:c.828G>T (AIFM1)	ENSP00000501724.1:p.Glu276Asp
ENST00000675050.1:c.816G>T (AIFM1)	ENSP00000502606.1:p.Glu272Asp
ENST00000675092.1:c.828G>T (AIFM1)	ENSP00000501772.1:p.Glu276Asp
ENST00000675111.1:n.753G>T (AIFM1)
ENST00000675240.1:c.828G>T (AIFM1)	ENSP00000501907.1:p.Glu276Asp
ENST00000675427.1:c.828G>T (AIFM1)	ENSP00000501880.1:p.Glu276Asp
ENST00000675774.1:c.*612G>T (AIFM1)	ENSP00000502690.1:n.*612G>T
ENST00000675857.1:c.822G>T (AIFM1)	ENSP00000502721.1:p.Glu274Asp
ENST00000676048.1:n.3950G>T (AIFM1)
ENST00000676144.1:c.603G>T (AIFM1)
ENST00000676229.1:c.816G>T (AIFM1)	ENSP00000502184.1:p.Glu272Asp
ENST00000676328.1:c.825G>T (AIFM1)	ENSP00000502068.1:p.Glu275Asp
ENST00000676436.1:c.822G>T (AIFM1)	ENSP00000502669.1:p.Glu274Asp
ENST00000287295.7:c.828G>T (AIFM1)	ENSP00000287295.3:p.Glu276Asp
ENST00000319908.7:c.816G>T (AIFM1)	ENSP00000315122.3:p.Glu272Asp
ENST00000346424.6:c.107-2640G>T (AIFM1)	ENSP00000316320.3:n.107-2640G>T
ENST00000416073.6:c.828G>T (AIFM1)	ENSP00000402535.2:p.Glu276Asp
ENST00000527892.5:c.*553G>T (AIFM1)	ENSP00000435955.1:n.*553G>T
ENST00000533719.1:n.531G>T (AIFM1)
ENST00000535724.5:c.828G>T (AIFM1)	ENSP00000446113.2:p.Glu276Asp
NM_001130847.3:c.828G>T (AIFM1)	NP_001124319.1:p.Glu276Asp
NM_004208.3:c.828G>T (AIFM1)	NP_004199.1:p.Glu276Asp
NM_145812.2:c.816G>T (AIFM1)	NP_665811.1:p.Glu272Asp
NM_145813.2:c.107-2640G>T (AIFM1)	NP_665812.1:n.107-2640G>T
NR_132647.1:n.916G>T (AIFM1)
XM_017029963.2:c.30+22440C>A (RAB33A)	XP_016885452.1:n.30+22440C>A
NM_004208.4:c.828G>T (AIFM1) MANE Select	NP_004199.1:p.Glu276Asp
NM_001130847.4:c.828G>T (AIFM1)	NP_001124319.1:p.Glu276Asp
NM_145812.3:c.816G>T (AIFM1)	NP_665811.1:p.Glu272Asp
NR_132647.2:n.870G>T (AIFM1)