Canonical Allele Identifier: CA414582531

Gene: AIFM1 RAB33A

Linked Data

• MyVariant Identifiers: chrX:g.129273820T>G (hg19) ; chrX:g.130139845T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130139845T>G , CM000685.2:g.130139845T>G	GRCh38
NC_000023.10:g.129273820T>G , CM000685.1:g.129273820T>G	GRCh37
NC_000023.9:g.129101501T>G	NCBI36
NG_013217.1:g.30989A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.808A>C (AIFM1) MANE Select	ENSP00000287295.3:p.Ile270Leu
ENST00000319908.8:c.805A>C (AIFM1)	ENSP00000315122.4:p.Ile269Leu
ENST00000416073.7:c.802A>C (AIFM1)	ENSP00000402535.3:p.Ile268Leu
ENST00000533719.2:n.600A>C (AIFM1)
ENST00000535724.6:c.808A>C (AIFM1)	ENSP00000446113.2:p.Ile270Leu
ENST00000674546.1:c.808A>C (AIFM1)	ENSP00000501950.1:p.Ile270Leu
ENST00000674555.1:c.*543A>C (AIFM1)	ENSP00000502183.1:n.*543A>C
ENST00000674722.1:c.723A>C (AIFM1)	ENSP00000501693.1:p.Pro241=
ENST00000674957.1:c.509A>C (AIFM1)
ENST00000674997.1:c.665A>C (AIFM1)	ENSP00000502124.1:n.665A>C
ENST00000675037.1:c.808A>C (AIFM1)	ENSP00000501724.1:p.Ile270Leu
ENST00000675050.1:c.796A>C (AIFM1)	ENSP00000502606.1:p.Ile266Leu
ENST00000675092.1:c.808A>C (AIFM1)	ENSP00000501772.1:p.Ile270Leu
ENST00000675111.1:n.733A>C (AIFM1)
ENST00000675240.1:c.808A>C (AIFM1)	ENSP00000501907.1:p.Ile270Leu
ENST00000675427.1:c.808A>C (AIFM1)	ENSP00000501880.1:p.Ile270Leu
ENST00000675774.1:c.*592A>C (AIFM1)	ENSP00000502690.1:n.*592A>C
ENST00000675857.1:c.802A>C (AIFM1)	ENSP00000502721.1:p.Ile268Leu
ENST00000676048.1:n.3930A>C (AIFM1)
ENST00000676144.1:c.583A>C (AIFM1)
ENST00000676229.1:c.796A>C (AIFM1)	ENSP00000502184.1:p.Ile266Leu
ENST00000676328.1:c.805A>C (AIFM1)	ENSP00000502068.1:p.Ile269Leu
ENST00000676436.1:c.802A>C (AIFM1)	ENSP00000502669.1:p.Ile268Leu
ENST00000287295.7:c.808A>C (AIFM1)	ENSP00000287295.3:p.Ile270Leu
ENST00000319908.7:c.796A>C (AIFM1)	ENSP00000315122.3:p.Ile266Leu
ENST00000346424.6:c.107-2660A>C (AIFM1)	ENSP00000316320.3:n.107-2660A>C
ENST00000416073.6:c.808A>C (AIFM1)	ENSP00000402535.2:p.Ile270Leu
ENST00000527892.5:c.*533A>C (AIFM1)	ENSP00000435955.1:n.*533A>C
ENST00000533719.1:n.511A>C (AIFM1)
ENST00000535724.5:c.808A>C (AIFM1)	ENSP00000446113.2:p.Ile270Leu
NM_001130847.3:c.808A>C (AIFM1)	NP_001124319.1:p.Ile270Leu
NM_004208.3:c.808A>C (AIFM1)	NP_004199.1:p.Ile270Leu
NM_145812.2:c.796A>C (AIFM1)	NP_665811.1:p.Ile266Leu
NM_145813.2:c.107-2660A>C (AIFM1)	NP_665812.1:n.107-2660A>C
NR_132647.1:n.896A>C (AIFM1)
XM_017029963.2:c.30+22460T>G (RAB33A)	XP_016885452.1:n.30+22460T>G
NM_004208.4:c.808A>C (AIFM1) MANE Select	NP_004199.1:p.Ile270Leu
NM_001130847.4:c.808A>C (AIFM1)	NP_001124319.1:p.Ile270Leu
NM_145812.3:c.796A>C (AIFM1)	NP_665811.1:p.Ile266Leu
NR_132647.2:n.850A>C (AIFM1)