Canonical Allele Identifier: CA10515241
Gene: AIFM1 HGNC NCBI
RAB33A HGNC NCBI

Linked Data

ClinVar Variation Id: 377456
dbSNP Id: rs150821143

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.130130096C>T , CM000685.2:g.130130096C>T GRCh38
NC_000023.10:g.129264071C>T , CM000685.1:g.129264071C>T GRCh37
NC_000023.9:g.129091752C>T NCBI36
NG_013217.1:g.40738G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287295.8:c.1644G>A (AIFM1) MANE Select ENSP00000287295.3:p.Pro548=
ENST00000319908.8:c.1638G>A (AIFM1) ENSP00000315122.4:p.Pro546=
ENST00000416073.7:c.*308G>A (AIFM1) ENSP00000402535.3:n.*308G>A
ENST00000535724.6:c.*872G>A (AIFM1) ENSP00000446113.2:n.*872G>A
ENST00000674546.1:c.1652G>A (AIFM1) ENSP00000501950.1:p.Arg551Gln
ENST00000674555.1:c.*1379G>A (AIFM1) ENSP00000502183.1:n.*1379G>A
ENST00000674582.1:n.1821G>A (AIFM1)
ENST00000674591.1:n.1130G>A (AIFM1)
ENST00000674601.1:c.491G>A (AIFM1)
ENST00000674722.1:c.*812G>A (AIFM1) ENSP00000501693.1:n.*812G>A
ENST00000674957.1:c.1341G>A (AIFM1)
ENST00000674997.1:c.1501G>A (AIFM1) ENSP00000502124.1:n.1501G>A
ENST00000675037.1:c.*190G>A (AIFM1) ENSP00000501724.1:n.*190G>A
ENST00000675050.1:c.1632G>A (AIFM1) ENSP00000502606.1:p.Pro544=
ENST00000675092.1:c.1671G>A (AIFM1) ENSP00000501772.1:p.Pro557=
ENST00000675111.1:n.1569G>A (AIFM1)
ENST00000675240.1:c.1580G>A (AIFM1) ENSP00000501907.1:p.Arg527Gln
ENST00000675427.1:c.1641G>A (AIFM1) ENSP00000501880.1:p.Pro547=
ENST00000675857.1:c.1638G>A (AIFM1) ENSP00000502721.1:p.Pro546=
ENST00000676048.1:n.4766G>A (AIFM1)
ENST00000676229.1:c.1632G>A (AIFM1) ENSP00000502184.1:p.Pro544=
ENST00000676328.1:c.1641G>A (AIFM1) ENSP00000502068.1:p.Pro547=
ENST00000676436.1:c.1632G>A (AIFM1) ENSP00000502669.1:p.Pro544=
ENST00000287295.7:c.1644G>A (AIFM1) ENSP00000287295.3:p.Pro548=
ENST00000319908.7:c.1632G>A (AIFM1) ENSP00000315122.3:p.Pro544=
ENST00000346424.6:c.783G>A (AIFM1) ENSP00000316320.3:p.Pro261=
ENST00000416073.6:c.*872G>A (AIFM1) ENSP00000402535.2:n.*872G>A
ENST00000460436.6:c.627G>A (AIFM1) ENSP00000431222.1:p.Pro209=
ENST00000527892.5:c.*1572G>A (AIFM1) ENSP00000435955.1:n.*1572G>A
ENST00000535724.5:c.*872G>A (AIFM1) ENSP00000446113.2:n.*872G>A
NM_001130846.2:c.588G>A (AIFM1) NP_001124318.1:p.Pro196=
NM_001130846.3:c.627G>A (AIFM1) NP_001124318.2:p.Pro209=
NM_001130847.3:c.*872G>A (AIFM1) NP_001124319.1:n.*872G>A
NM_004208.3:c.1644G>A (AIFM1) NP_004199.1:p.Pro548=
NM_145812.2:c.1632G>A (AIFM1) NP_665811.1:p.Pro544=
NM_145813.2:c.783G>A (AIFM1) NP_665812.1:p.Pro261=
NR_132647.1:n.1935G>A (AIFM1)
XM_017029963.2:c.30+12711C>T (RAB33A) XP_016885452.1:n.30+12711C>T
NM_004208.4:c.1644G>A (AIFM1) MANE Select NP_004199.1:p.Pro548=
NM_001130846.4:c.627G>A (AIFM1) NP_001124318.2:p.Pro209=
NM_001130847.4:c.*872G>A (AIFM1) NP_001124319.1:n.*872G>A
NM_145812.3:c.1632G>A (AIFM1) NP_665811.1:p.Pro544=
NR_132647.2:n.1889G>A (AIFM1)