Canonical Allele Identifier: CA414582683
Gene: AIFM1 HGNC NCBI
RAB33A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.130139862G>T , CM000685.2:g.130139862G>T GRCh38
NC_000023.10:g.129273837G>T , CM000685.1:g.129273837G>T GRCh37
NC_000023.9:g.129101518G>T NCBI36
NG_013217.1:g.30972C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287295.8:c.791C>A (AIFM1) MANE Select ENSP00000287295.3:p.Pro264Gln
ENST00000319908.8:c.788C>A (AIFM1) ENSP00000315122.4:p.Pro263Gln
ENST00000416073.7:c.785C>A (AIFM1) ENSP00000402535.3:p.Pro262Gln
ENST00000533719.2:n.583C>A (AIFM1)
ENST00000535724.6:c.791C>A (AIFM1) ENSP00000446113.2:p.Pro264Gln
ENST00000674546.1:c.791C>A (AIFM1) ENSP00000501950.1:p.Pro264Gln
ENST00000674555.1:c.*526C>A (AIFM1) ENSP00000502183.1:n.*526C>A
ENST00000674722.1:c.706C>A (AIFM1) ENSP00000501693.1:p.Gln236Lys
ENST00000674957.1:c.492C>A (AIFM1)
ENST00000674997.1:c.648C>A (AIFM1) ENSP00000502124.1:n.648C>A
ENST00000675037.1:c.791C>A (AIFM1) ENSP00000501724.1:p.Pro264Gln
ENST00000675050.1:c.779C>A (AIFM1) ENSP00000502606.1:p.Pro260Gln
ENST00000675092.1:c.791C>A (AIFM1) ENSP00000501772.1:p.Pro264Gln
ENST00000675111.1:n.716C>A (AIFM1)
ENST00000675240.1:c.791C>A (AIFM1) ENSP00000501907.1:p.Pro264Gln
ENST00000675427.1:c.791C>A (AIFM1) ENSP00000501880.1:p.Pro264Gln
ENST00000675774.1:c.*575C>A (AIFM1) ENSP00000502690.1:n.*575C>A
ENST00000675857.1:c.785C>A (AIFM1) ENSP00000502721.1:p.Pro262Gln
ENST00000676048.1:n.3913C>A (AIFM1)
ENST00000676144.1:c.566C>A (AIFM1)
ENST00000676229.1:c.779C>A (AIFM1) ENSP00000502184.1:p.Pro260Gln
ENST00000676328.1:c.788C>A (AIFM1) ENSP00000502068.1:p.Pro263Gln
ENST00000676436.1:c.785C>A (AIFM1) ENSP00000502669.1:p.Pro262Gln
ENST00000287295.7:c.791C>A (AIFM1) ENSP00000287295.3:p.Pro264Gln
ENST00000319908.7:c.779C>A (AIFM1) ENSP00000315122.3:p.Pro260Gln
ENST00000346424.6:c.107-2677C>A (AIFM1) ENSP00000316320.3:n.107-2677C>A
ENST00000416073.6:c.791C>A (AIFM1) ENSP00000402535.2:p.Pro264Gln
ENST00000527892.5:c.*516C>A (AIFM1) ENSP00000435955.1:n.*516C>A
ENST00000533719.1:n.494C>A (AIFM1)
ENST00000535724.5:c.791C>A (AIFM1) ENSP00000446113.2:p.Pro264Gln
NM_001130847.3:c.791C>A (AIFM1) NP_001124319.1:p.Pro264Gln
NM_004208.3:c.791C>A (AIFM1) NP_004199.1:p.Pro264Gln
NM_145812.2:c.779C>A (AIFM1) NP_665811.1:p.Pro260Gln
NM_145813.2:c.107-2677C>A (AIFM1) NP_665812.1:n.107-2677C>A
NR_132647.1:n.879C>A (AIFM1)
XM_017029963.2:c.30+22477G>T (RAB33A) XP_016885452.1:n.30+22477G>T
NM_004208.4:c.791C>A (AIFM1) MANE Select NP_004199.1:p.Pro264Gln
NM_001130847.4:c.791C>A (AIFM1) NP_001124319.1:p.Pro264Gln
NM_145812.3:c.779C>A (AIFM1) NP_665811.1:p.Pro260Gln
NR_132647.2:n.833C>A (AIFM1)