Canonical Allele Identifier: CA414581789

Gene: AIFM1 RAB33A

Linked Data

• MyVariant Identifiers: chrX:g.129272673C>G (hg19) ; chrX:g.130138698C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130138698C>G , CM000685.2:g.130138698C>G	GRCh38
NC_000023.10:g.129272673C>G , CM000685.1:g.129272673C>G	GRCh37
NC_000023.9:g.129100354C>G	NCBI36
NG_013217.1:g.32136G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.862G>C (AIFM1) MANE Select	ENSP00000287295.3:p.Gly288Arg
ENST00000319908.8:c.859G>C (AIFM1)	ENSP00000315122.4:p.Gly287Arg
ENST00000416073.7:c.856G>C (AIFM1)	ENSP00000402535.3:p.Gly286Arg
ENST00000533719.2:n.654G>C (AIFM1)
ENST00000535724.6:c.862G>C (AIFM1)	ENSP00000446113.2:p.Gly288Arg
ENST00000674546.1:c.862G>C (AIFM1)	ENSP00000501950.1:p.Gly288Arg
ENST00000674555.1:c.*597G>C (AIFM1)	ENSP00000502183.1:n.*597G>C
ENST00000674722.1:c.*30G>C (AIFM1)	ENSP00000501693.1:n.*30G>C
ENST00000674957.1:c.563G>C (AIFM1)
ENST00000674997.1:c.719G>C (AIFM1)	ENSP00000502124.1:n.719G>C
ENST00000675037.1:c.862G>C (AIFM1)	ENSP00000501724.1:p.Gly288Arg
ENST00000675050.1:c.850G>C (AIFM1)	ENSP00000502606.1:p.Gly284Arg
ENST00000675092.1:c.862G>C (AIFM1)	ENSP00000501772.1:p.Gly288Arg
ENST00000675111.1:n.787G>C (AIFM1)
ENST00000675240.1:c.862G>C (AIFM1)	ENSP00000501907.1:p.Gly288Arg
ENST00000675427.1:c.862G>C (AIFM1)	ENSP00000501880.1:p.Gly288Arg
ENST00000675774.1:c.*646G>C (AIFM1)	ENSP00000502690.1:n.*646G>C
ENST00000675857.1:c.856G>C (AIFM1)	ENSP00000502721.1:p.Gly286Arg
ENST00000676048.1:n.3984G>C (AIFM1)
ENST00000676144.1:c.637G>C (AIFM1)
ENST00000676229.1:c.850G>C (AIFM1)	ENSP00000502184.1:p.Gly284Arg
ENST00000676328.1:c.859G>C (AIFM1)	ENSP00000502068.1:p.Gly287Arg
ENST00000676436.1:c.856G>C (AIFM1)	ENSP00000502669.1:p.Gly286Arg
ENST00000287295.7:c.862G>C (AIFM1)	ENSP00000287295.3:p.Gly288Arg
ENST00000319908.7:c.850G>C (AIFM1)	ENSP00000315122.3:p.Gly284Arg
ENST00000346424.6:c.107-1513G>C (AIFM1)	ENSP00000316320.3:n.107-1513G>C
ENST00000416073.6:c.862G>C (AIFM1)	ENSP00000402535.2:p.Gly288Arg
ENST00000527892.5:c.*587G>C (AIFM1)	ENSP00000435955.1:n.*587G>C
ENST00000533719.1:n.565G>C (AIFM1)
ENST00000535724.5:c.862G>C (AIFM1)	ENSP00000446113.2:p.Gly288Arg
NM_001130847.3:c.862G>C (AIFM1)	NP_001124319.1:p.Gly288Arg
NM_004208.3:c.862G>C (AIFM1)	NP_004199.1:p.Gly288Arg
NM_145812.2:c.850G>C (AIFM1)	NP_665811.1:p.Gly284Arg
NM_145813.2:c.107-1513G>C (AIFM1)	NP_665812.1:n.107-1513G>C
NR_132647.1:n.950G>C (AIFM1)
XM_017029963.2:c.30+21313C>G (RAB33A)	XP_016885452.1:n.30+21313C>G
NM_004208.4:c.862G>C (AIFM1) MANE Select	NP_004199.1:p.Gly288Arg
NM_001130847.4:c.862G>C (AIFM1)	NP_001124319.1:p.Gly288Arg
NM_145812.3:c.850G>C (AIFM1)	NP_665811.1:p.Gly284Arg
NR_132647.2:n.904G>C (AIFM1)