Canonical Allele Identifier: CA414581167

Gene: AIFM1 RAB33A

Linked Data

• dbSNP Id: rs2124655182
• COSMIC: COSM5430669 ; COSM5430670
• MyVariant Identifiers: chrX:g.129272616C>T (hg19) ; chrX:g.130138641C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130138641C>T , CM000685.2:g.130138641C>T	GRCh38
NC_000023.10:g.129272616C>T , CM000685.1:g.129272616C>T	GRCh37
NC_000023.9:g.129100297C>T	NCBI36
NG_013217.1:g.32193G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.919G>A (AIFM1) MANE Select	ENSP00000287295.3:p.Gly307Ser
ENST00000319908.8:c.916G>A (AIFM1)	ENSP00000315122.4:p.Gly306Ser
ENST00000416073.7:c.913G>A (AIFM1)	ENSP00000402535.3:p.Gly305Ser
ENST00000533719.2:n.711G>A (AIFM1)
ENST00000535724.6:c.919G>A (AIFM1)	ENSP00000446113.2:p.Gly307Ser
ENST00000674546.1:c.919G>A (AIFM1)	ENSP00000501950.1:p.Gly307Ser
ENST00000674555.1:c.*654G>A (AIFM1)	ENSP00000502183.1:n.*654G>A
ENST00000674722.1:c.*87G>A (AIFM1)	ENSP00000501693.1:n.*87G>A
ENST00000674957.1:c.620G>A (AIFM1)
ENST00000674997.1:c.776G>A (AIFM1)	ENSP00000502124.1:n.776G>A
ENST00000675037.1:c.919G>A (AIFM1)	ENSP00000501724.1:p.Gly307Ser
ENST00000675050.1:c.907G>A (AIFM1)	ENSP00000502606.1:p.Gly303Ser
ENST00000675092.1:c.919G>A (AIFM1)	ENSP00000501772.1:p.Gly307Ser
ENST00000675111.1:n.844G>A (AIFM1)
ENST00000675240.1:c.919G>A (AIFM1)	ENSP00000501907.1:p.Gly307Ser
ENST00000675427.1:c.919G>A (AIFM1)	ENSP00000501880.1:p.Gly307Ser
ENST00000675774.1:c.*703G>A (AIFM1)	ENSP00000502690.1:n.*703G>A
ENST00000675857.1:c.913G>A (AIFM1)	ENSP00000502721.1:p.Gly305Ser
ENST00000676048.1:n.4041G>A (AIFM1)
ENST00000676144.1:c.694G>A (AIFM1)
ENST00000676229.1:c.907G>A (AIFM1)	ENSP00000502184.1:p.Gly303Ser
ENST00000676328.1:c.916G>A (AIFM1)	ENSP00000502068.1:p.Gly306Ser
ENST00000676436.1:c.913G>A (AIFM1)	ENSP00000502669.1:p.Gly305Ser
ENST00000287295.7:c.919G>A (AIFM1)	ENSP00000287295.3:p.Gly307Ser
ENST00000319908.7:c.907G>A (AIFM1)	ENSP00000315122.3:p.Gly303Ser
ENST00000346424.6:c.107-1456G>A (AIFM1)	ENSP00000316320.3:n.107-1456G>A
ENST00000416073.6:c.919G>A (AIFM1)	ENSP00000402535.2:p.Gly307Ser
ENST00000527892.5:c.*644G>A (AIFM1)	ENSP00000435955.1:n.*644G>A
ENST00000533719.1:n.622G>A (AIFM1)
ENST00000535724.5:c.919G>A (AIFM1)	ENSP00000446113.2:p.Gly307Ser
NM_001130847.3:c.919G>A (AIFM1)	NP_001124319.1:p.Gly307Ser
NM_004208.3:c.919G>A (AIFM1)	NP_004199.1:p.Gly307Ser
NM_145812.2:c.907G>A (AIFM1)	NP_665811.1:p.Gly303Ser
NM_145813.2:c.107-1456G>A (AIFM1)	NP_665812.1:n.107-1456G>A
NR_132647.1:n.1007G>A (AIFM1)
XM_017029963.2:c.30+21256C>T (RAB33A)	XP_016885452.1:n.30+21256C>T
NM_004208.4:c.919G>A (AIFM1) MANE Select	NP_004199.1:p.Gly307Ser
NM_001130847.4:c.919G>A (AIFM1)	NP_001124319.1:p.Gly307Ser
NM_145812.3:c.907G>A (AIFM1)	NP_665811.1:p.Gly303Ser
NR_132647.2:n.961G>A (AIFM1)