Canonical Allele Identifier: CA10515373

Gene: AIFM1 RAB33A

Linked Data

• ClinVar Variation Id: 655000
• ClinVar RCV Id: RCV000811082 ; RCV002225737
• dbSNP Id: rs766786579
• ExAC: X:129272642 C / T
• gnomAD v2: X-129272642-C-T
• gnomAD v3: X-130138667-C-T
• gnomAD v4: X-130138667-C-T
• COSMIC: COSM4439208 ; COSM4439209
• MyVariant Identifiers: chrX:g.129272642C>T (hg19) ; chrX:g.130138667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130138667C>T , CM000685.2:g.130138667C>T	GRCh38
NC_000023.10:g.129272642C>T , CM000685.1:g.129272642C>T	GRCh37
NC_000023.9:g.129100323C>T	NCBI36
NG_013217.1:g.32167G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.893G>A (AIFM1) MANE Select	ENSP00000287295.3:p.Arg298Gln
ENST00000319908.8:c.890G>A (AIFM1)	ENSP00000315122.4:p.Arg297Gln
ENST00000416073.7:c.887G>A (AIFM1)	ENSP00000402535.3:p.Arg296Gln
ENST00000533719.2:n.685G>A (AIFM1)
ENST00000535724.6:c.893G>A (AIFM1)	ENSP00000446113.2:p.Arg298Gln
ENST00000674546.1:c.893G>A (AIFM1)	ENSP00000501950.1:p.Arg298Gln
ENST00000674555.1:c.*628G>A (AIFM1)	ENSP00000502183.1:n.*628G>A
ENST00000674722.1:c.*61G>A (AIFM1)	ENSP00000501693.1:n.*61G>A
ENST00000674957.1:c.594G>A (AIFM1)
ENST00000674997.1:c.750G>A (AIFM1)	ENSP00000502124.1:n.750G>A
ENST00000675037.1:c.893G>A (AIFM1)	ENSP00000501724.1:p.Arg298Gln
ENST00000675050.1:c.881G>A (AIFM1)	ENSP00000502606.1:p.Arg294Gln
ENST00000675092.1:c.893G>A (AIFM1)	ENSP00000501772.1:p.Arg298Gln
ENST00000675111.1:n.818G>A (AIFM1)
ENST00000675240.1:c.893G>A (AIFM1)	ENSP00000501907.1:p.Arg298Gln
ENST00000675427.1:c.893G>A (AIFM1)	ENSP00000501880.1:p.Arg298Gln
ENST00000675774.1:c.*677G>A (AIFM1)	ENSP00000502690.1:n.*677G>A
ENST00000675857.1:c.887G>A (AIFM1)	ENSP00000502721.1:p.Arg296Gln
ENST00000676048.1:n.4015G>A (AIFM1)
ENST00000676144.1:c.668G>A (AIFM1)
ENST00000676229.1:c.881G>A (AIFM1)	ENSP00000502184.1:p.Arg294Gln
ENST00000676328.1:c.890G>A (AIFM1)	ENSP00000502068.1:p.Arg297Gln
ENST00000676436.1:c.887G>A (AIFM1)	ENSP00000502669.1:p.Arg296Gln
ENST00000287295.7:c.893G>A (AIFM1)	ENSP00000287295.3:p.Arg298Gln
ENST00000319908.7:c.881G>A (AIFM1)	ENSP00000315122.3:p.Arg294Gln
ENST00000346424.6:c.107-1482G>A (AIFM1)	ENSP00000316320.3:n.107-1482G>A
ENST00000416073.6:c.893G>A (AIFM1)	ENSP00000402535.2:p.Arg298Gln
ENST00000527892.5:c.*618G>A (AIFM1)	ENSP00000435955.1:n.*618G>A
ENST00000533719.1:n.596G>A (AIFM1)
ENST00000535724.5:c.893G>A (AIFM1)	ENSP00000446113.2:p.Arg298Gln
NM_001130847.3:c.893G>A (AIFM1)	NP_001124319.1:p.Arg298Gln
NM_004208.3:c.893G>A (AIFM1)	NP_004199.1:p.Arg298Gln
NM_145812.2:c.881G>A (AIFM1)	NP_665811.1:p.Arg294Gln
NM_145813.2:c.107-1482G>A (AIFM1)	NP_665812.1:n.107-1482G>A
NR_132647.1:n.981G>A (AIFM1)
XM_017029963.2:c.30+21282C>T (RAB33A)	XP_016885452.1:n.30+21282C>T
NM_004208.4:c.893G>A (AIFM1) MANE Select	NP_004199.1:p.Arg298Gln
NM_001130847.4:c.893G>A (AIFM1)	NP_001124319.1:p.Arg298Gln
NM_145812.3:c.881G>A (AIFM1)	NP_665811.1:p.Arg294Gln
NR_132647.2:n.935G>A (AIFM1)