Canonical Allele Identifier: CA261189
Gene: AIFM1 HGNC NCBI
RAB33A HGNC NCBI

Linked Data

ClinVar Variation Id: 39601
ClinVar RCV Id: RCV000032801
dbSNP Id: rs281864468

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.130131770T>A , CM000685.2:g.130131770T>A GRCh38
NC_000023.10:g.129265745T>A , CM000685.1:g.129265745T>A GRCh37
NC_000023.9:g.129093426T>A NCBI36
NG_013217.1:g.39064A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287295.8:c.1478A>T (AIFM1) MANE Select ENSP00000287295.3:p.Glu493Val
ENST00000319908.8:c.1472A>T (AIFM1) ENSP00000315122.4:p.Glu491Val
ENST00000416073.7:c.*142A>T (AIFM1) ENSP00000402535.3:n.*142A>T
ENST00000535724.6:c.*706A>T (AIFM1) ENSP00000446113.2:n.*706A>T
ENST00000674546.1:c.1478A>T (AIFM1) ENSP00000501950.1:p.Glu493Val
ENST00000674555.1:c.*1213A>T (AIFM1) ENSP00000502183.1:n.*1213A>T
ENST00000674582.1:n.147A>T (AIFM1)
ENST00000674591.1:n.964A>T (AIFM1)
ENST00000674601.1:c.325A>T (AIFM1)
ENST00000674722.1:c.*646A>T (AIFM1) ENSP00000501693.1:n.*646A>T
ENST00000674957.1:c.1175A>T (AIFM1)
ENST00000674997.1:c.1335A>T (AIFM1) ENSP00000502124.1:n.1335A>T
ENST00000675037.1:c.*24A>T (AIFM1) ENSP00000501724.1:n.*24A>T
ENST00000675050.1:c.1466A>T (AIFM1) ENSP00000502606.1:p.Glu489Val
ENST00000675092.1:c.1478A>T (AIFM1) ENSP00000501772.1:p.Glu493Val
ENST00000675111.1:n.1403A>T (AIFM1)
ENST00000675240.1:c.1478A>T (AIFM1) ENSP00000501907.1:p.Glu493Val
ENST00000675427.1:c.1475A>T (AIFM1) ENSP00000501880.1:p.Glu492Val
ENST00000675857.1:c.1472A>T (AIFM1) ENSP00000502721.1:p.Glu491Val
ENST00000676048.1:n.4600A>T (AIFM1)
ENST00000676229.1:c.1466A>T (AIFM1) ENSP00000502184.1:p.Glu489Val
ENST00000676328.1:c.1475A>T (AIFM1) ENSP00000502068.1:p.Glu492Val
ENST00000676436.1:c.1466A>T (AIFM1) ENSP00000502669.1:p.Glu489Val
ENST00000287295.7:c.1478A>T (AIFM1) ENSP00000287295.3:p.Glu493Val
ENST00000319908.7:c.1466A>T (AIFM1) ENSP00000315122.3:p.Glu489Val
ENST00000346424.6:c.617A>T (AIFM1) ENSP00000316320.3:p.Glu206Val
ENST00000416073.6:c.*706A>T (AIFM1) ENSP00000402535.2:n.*706A>T
ENST00000460436.6:c.461A>T (AIFM1) ENSP00000431222.1:p.Glu154Val
ENST00000527892.5:c.*1406A>T (AIFM1) ENSP00000435955.1:n.*1406A>T
ENST00000535724.5:c.*706A>T (AIFM1) ENSP00000446113.2:n.*706A>T
NM_001130846.2:c.422A>T (AIFM1) NP_001124318.1:p.Glu141Val
NM_001130846.3:c.461A>T (AIFM1) NP_001124318.2:p.Glu154Val
NM_001130847.3:c.*706A>T (AIFM1) NP_001124319.1:n.*706A>T
NM_004208.3:c.1478A>T (AIFM1) NP_004199.1:p.Glu493Val
NM_145812.2:c.1466A>T (AIFM1) NP_665811.1:p.Glu489Val
NM_145813.2:c.617A>T (AIFM1) NP_665812.1:p.Glu206Val
NR_132647.1:n.1769A>T (AIFM1)
XM_017029963.2:c.30+14385T>A (RAB33A) XP_016885452.1:n.30+14385T>A
NM_004208.4:c.1478A>T (AIFM1) MANE Select NP_004199.1:p.Glu493Val
NM_001130846.4:c.461A>T (AIFM1) NP_001124318.2:p.Glu154Val
NM_001130847.4:c.*706A>T (AIFM1) NP_001124319.1:n.*706A>T
NM_145812.3:c.1466A>T (AIFM1) NP_665811.1:p.Glu489Val
NR_132647.2:n.1723A>T (AIFM1)