Canonical Allele Identifier: CA518469945
Community Standard Title: NM_004208.4(AIFM1):c.756C>T (p.Thr252=)
Gene: AIFM1 HGNC NCBI
RAB33A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.130140558G>A , CM000685.2:g.130140558G>A GRCh38
NC_000023.10:g.129274533G>A , CM000685.1:g.129274533G>A GRCh37
NC_000023.9:g.129102214G>A NCBI36
NG_013217.1:g.30276C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004208.4:c.756C>T (AIFM1) MANE Select NP_004199.1:p.Thr252=
ENST00000287295.8:c.756C>T (AIFM1) MANE Select ENSP00000287295.3:p.Thr252=
NM_001130847.3:c.756C>T (AIFM1) NP_001124319.1:p.Thr252=
NM_001130847.4:c.756C>T (AIFM1) NP_001124319.1:p.Thr252=
NM_004208.3:c.756C>T (AIFM1) NP_004199.1:p.Thr252=
NM_145812.2:c.744C>T (AIFM1) NP_665811.1:p.Thr248=
NM_145812.3:c.744C>T (AIFM1) NP_665811.1:p.Thr248=
NM_145813.2:c.107-3373C>T (AIFM1) NP_665812.1:n.107-3373C>T
NR_132647.1:n.844C>T (AIFM1)
NR_132647.2:n.798C>T (AIFM1)
ENST00000287295.7:c.756C>T (AIFM1) ENSP00000287295.3:p.Thr252=
ENST00000319908.7:c.744C>T (AIFM1) ENSP00000315122.3:p.Thr248=
ENST00000319908.8:c.756C>T (AIFM1) ENSP00000315122.4:p.Thr252=
ENST00000346424.6:c.107-3373C>T (AIFM1) ENSP00000316320.3:n.107-3373C>T
ENST00000416073.6:c.756C>T (AIFM1) ENSP00000402535.2:p.Thr252=
ENST00000416073.7:c.750C>T (AIFM1) ENSP00000402535.3:p.Thr250=
ENST00000527892.5:c.*481C>T (AIFM1) ENSP00000435955.1:n.*481C>T
ENST00000533719.1:n.459C>T (AIFM1)
ENST00000533719.2:n.548C>T (AIFM1)
ENST00000535724.5:c.756C>T (AIFM1) ENSP00000446113.2:p.Thr252=
ENST00000535724.6:c.756C>T (AIFM1) ENSP00000446113.2:p.Thr252=
ENST00000674546.1:c.756C>T (AIFM1) ENSP00000501950.1:p.Thr252=
ENST00000674555.1:c.*491C>T (AIFM1) ENSP00000502183.1:n.*491C>T
ENST00000674722.1:c.697-687C>T (AIFM1) ENSP00000501693.1:n.697-687C>T
ENST00000674957.1:c.457C>T (AIFM1)
ENST00000674997.1:c.613C>T (AIFM1) ENSP00000502124.1:n.613C>T
ENST00000675037.1:c.756C>T (AIFM1) ENSP00000501724.1:p.Thr252=
ENST00000675050.1:c.744C>T (AIFM1) ENSP00000502606.1:p.Thr248=
ENST00000675092.1:c.756C>T (AIFM1) ENSP00000501772.1:p.Thr252=
ENST00000675111.1:n.681C>T (AIFM1)
ENST00000675240.1:c.756C>T (AIFM1) ENSP00000501907.1:p.Thr252=
ENST00000675427.1:c.756C>T (AIFM1) ENSP00000501880.1:p.Thr252=
ENST00000675774.1:c.*540C>T (AIFM1) ENSP00000502690.1:n.*540C>T
ENST00000675857.1:c.750C>T (AIFM1) ENSP00000502721.1:p.Thr250=
ENST00000676048.1:n.3878C>T (AIFM1)
ENST00000676144.1:c.531C>T (AIFM1)
ENST00000676229.1:c.744C>T (AIFM1) ENSP00000502184.1:p.Thr248=
ENST00000676328.1:c.756C>T (AIFM1) ENSP00000502068.1:p.Thr252=
ENST00000676436.1:c.750C>T (AIFM1) ENSP00000502669.1:p.Thr250=
XM_017029963.2:c.30+23173G>A (RAB33A) XP_016885452.1:n.30+23173G>A