Canonical Allele Identifier: CA414582681

Gene: AIFM1 RAB33A

Linked Data

• MyVariant Identifiers: chrX:g.129273837G>C (hg19) ; chrX:g.130139862G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.791C>G (AIFM1) MANE Select	ENSP00000287295.3:p.Pro264Arg
ENST00000319908.8:c.788C>G (AIFM1)	ENSP00000315122.4:p.Pro263Arg
ENST00000416073.7:c.785C>G (AIFM1)	ENSP00000402535.3:p.Pro262Arg
ENST00000533719.2:n.583C>G (AIFM1)
ENST00000535724.6:c.791C>G (AIFM1)	ENSP00000446113.2:p.Pro264Arg
ENST00000674546.1:c.791C>G (AIFM1)	ENSP00000501950.1:p.Pro264Arg
ENST00000674555.1:c.*526C>G (AIFM1)	ENSP00000502183.1:n.*526C>G
ENST00000674722.1:c.706C>G (AIFM1)	ENSP00000501693.1:p.Gln236Glu
ENST00000674957.1:c.492C>G (AIFM1)
ENST00000674997.1:c.648C>G (AIFM1)	ENSP00000502124.1:n.648C>G
ENST00000675037.1:c.791C>G (AIFM1)	ENSP00000501724.1:p.Pro264Arg
ENST00000675050.1:c.779C>G (AIFM1)	ENSP00000502606.1:p.Pro260Arg
ENST00000675092.1:c.791C>G (AIFM1)	ENSP00000501772.1:p.Pro264Arg
ENST00000675111.1:n.716C>G (AIFM1)
ENST00000675240.1:c.791C>G (AIFM1)	ENSP00000501907.1:p.Pro264Arg
ENST00000675427.1:c.791C>G (AIFM1)	ENSP00000501880.1:p.Pro264Arg
ENST00000675774.1:c.*575C>G (AIFM1)	ENSP00000502690.1:n.*575C>G
ENST00000675857.1:c.785C>G (AIFM1)	ENSP00000502721.1:p.Pro262Arg
ENST00000676048.1:n.3913C>G (AIFM1)
ENST00000676144.1:c.566C>G (AIFM1)
ENST00000676229.1:c.779C>G (AIFM1)	ENSP00000502184.1:p.Pro260Arg
ENST00000676328.1:c.788C>G (AIFM1)	ENSP00000502068.1:p.Pro263Arg
ENST00000676436.1:c.785C>G (AIFM1)	ENSP00000502669.1:p.Pro262Arg
ENST00000287295.7:c.791C>G (AIFM1)	ENSP00000287295.3:p.Pro264Arg
ENST00000319908.7:c.779C>G (AIFM1)	ENSP00000315122.3:p.Pro260Arg
ENST00000346424.6:c.107-2677C>G (AIFM1)	ENSP00000316320.3:n.107-2677C>G
ENST00000416073.6:c.791C>G (AIFM1)	ENSP00000402535.2:p.Pro264Arg
ENST00000527892.5:c.*516C>G (AIFM1)	ENSP00000435955.1:n.*516C>G
ENST00000533719.1:n.494C>G (AIFM1)
ENST00000535724.5:c.791C>G (AIFM1)	ENSP00000446113.2:p.Pro264Arg
NM_001130847.3:c.791C>G (AIFM1)	NP_001124319.1:p.Pro264Arg
NM_004208.3:c.791C>G (AIFM1)	NP_004199.1:p.Pro264Arg
NM_145812.2:c.779C>G (AIFM1)	NP_665811.1:p.Pro260Arg
NM_145813.2:c.107-2677C>G (AIFM1)	NP_665812.1:n.107-2677C>G
NR_132647.1:n.879C>G (AIFM1)
XM_017029963.2:c.30+22477G>C (RAB33A)	XP_016885452.1:n.30+22477G>C
NM_004208.4:c.791C>G (AIFM1) MANE Select	NP_004199.1:p.Pro264Arg
NM_001130847.4:c.791C>G (AIFM1)	NP_001124319.1:p.Pro264Arg
NM_145812.3:c.779C>G (AIFM1)	NP_665811.1:p.Pro260Arg
NR_132647.2:n.833C>G (AIFM1)