Canonical Allele Identifier: CA414578594

Gene: AIFM1 RAB33A

Linked Data

• ClinVar Variation Id: 452403
• ClinVar RCV Id: RCV000519178
• dbSNP Id: rs1556262326
• MyVariant Identifiers: chrX:g.129270692T>C (hg19) ; chrX:g.130136717T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130136717T>C , CM000685.2:g.130136717T>C	GRCh38
NC_000023.10:g.129270692T>C , CM000685.1:g.129270692T>C	GRCh37
NC_000023.9:g.129098373T>C	NCBI36
NG_013217.1:g.34117A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000287295.8:c.1090A>G (AIFM1) MANE Select	ENSP00000287295.3:p.Met364Val
ENST00000319908.8:c.1087A>G (AIFM1)	ENSP00000315122.4:p.Met363Val
ENST00000416073.7:c.1084A>G (AIFM1)	ENSP00000402535.3:p.Met362Val
ENST00000533719.2:n.882A>G (AIFM1)
ENST00000535724.6:c.*318A>G (AIFM1)	ENSP00000446113.2:n.*318A>G
ENST00000674546.1:c.1090A>G (AIFM1)	ENSP00000501950.1:p.Met364Val
ENST00000674555.1:c.*825A>G (AIFM1)	ENSP00000502183.1:n.*825A>G
ENST00000674601.1:c.78A>G (AIFM1)
ENST00000674722.1:c.*258A>G (AIFM1)	ENSP00000501693.1:n.*258A>G
ENST00000674957.1:c.791A>G (AIFM1)
ENST00000674997.1:c.947A>G (AIFM1)	ENSP00000502124.1:n.947A>G
ENST00000675015.1:n.972A>G (AIFM1)
ENST00000675037.1:c.1090A>G (AIFM1)	ENSP00000501724.1:p.Met364Val
ENST00000675050.1:c.1078A>G (AIFM1)	ENSP00000502606.1:p.Met360Val
ENST00000675092.1:c.1090A>G (AIFM1)	ENSP00000501772.1:p.Met364Val
ENST00000675111.1:n.1015A>G (AIFM1)
ENST00000675240.1:c.1090A>G (AIFM1)	ENSP00000501907.1:p.Met364Val
ENST00000675427.1:c.1090A>G (AIFM1)	ENSP00000501880.1:p.Met364Val
ENST00000675857.1:c.1084A>G (AIFM1)	ENSP00000502721.1:p.Met362Val
ENST00000676048.1:n.4212A>G (AIFM1)
ENST00000676144.1:c.865A>G (AIFM1)
ENST00000676229.1:c.1078A>G (AIFM1)	ENSP00000502184.1:p.Met360Val
ENST00000676328.1:c.1087A>G (AIFM1)	ENSP00000502068.1:p.Met363Val
ENST00000676436.1:c.1078A>G (AIFM1)	ENSP00000502669.1:p.Met360Val
ENST00000287295.7:c.1090A>G (AIFM1)	ENSP00000287295.3:p.Met364Val
ENST00000319908.7:c.1078A>G (AIFM1)	ENSP00000315122.3:p.Met360Val
ENST00000346424.6:c.229A>G (AIFM1)	ENSP00000316320.3:p.Met77Val
ENST00000416073.6:c.*318A>G (AIFM1)	ENSP00000402535.2:n.*318A>G
ENST00000460436.6:c.73A>G (AIFM1)	ENSP00000431222.1:p.Met25Val
ENST00000527892.5:c.*1018A>G (AIFM1)	ENSP00000435955.1:n.*1018A>G
ENST00000533719.1:n.793A>G (AIFM1)
ENST00000535724.5:c.*318A>G (AIFM1)	ENSP00000446113.2:n.*318A>G
NM_001130846.2:c.34A>G (AIFM1)	NP_001124318.1:p.Met12Val
NM_001130846.3:c.73A>G (AIFM1)	NP_001124318.2:p.Met25Val
NM_001130847.3:c.*318A>G (AIFM1)	NP_001124319.1:n.*318A>G
NM_004208.3:c.1090A>G (AIFM1)	NP_004199.1:p.Met364Val
NM_145812.2:c.1078A>G (AIFM1)	NP_665811.1:p.Met360Val
NM_145813.2:c.229A>G (AIFM1)	NP_665812.1:p.Met77Val
NR_132647.1:n.1381A>G (AIFM1)
XM_017029963.2:c.30+19332T>C (RAB33A)	XP_016885452.1:n.30+19332T>C
NM_004208.4:c.1090A>G (AIFM1) MANE Select	NP_004199.1:p.Met364Val
NM_001130846.4:c.73A>G (AIFM1)	NP_001124318.2:p.Met25Val
NM_001130847.4:c.*318A>G (AIFM1)	NP_001124319.1:n.*318A>G
NM_145812.3:c.1078A>G (AIFM1)	NP_665811.1:p.Met360Val
NR_132647.2:n.1335A>G (AIFM1)