Canonical Allele Identifier: CA414582489

Gene: AIFM1 RAB33A

Linked Data

• MyVariant Identifiers: chrX:g.129273814T>A (hg19) ; chrX:g.130139839T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130139839T>A , CM000685.2:g.130139839T>A	GRCh38
NC_000023.10:g.129273814T>A , CM000685.1:g.129273814T>A	GRCh37
NC_000023.9:g.129101495T>A	NCBI36
NG_013217.1:g.30995A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.814A>T (AIFM1) MANE Select	ENSP00000287295.3:p.Arg272Trp
ENST00000319908.8:c.811A>T (AIFM1)	ENSP00000315122.4:p.Arg271Trp
ENST00000416073.7:c.808A>T (AIFM1)	ENSP00000402535.3:p.Arg270Trp
ENST00000533719.2:n.606A>T (AIFM1)
ENST00000535724.6:c.814A>T (AIFM1)	ENSP00000446113.2:p.Arg272Trp
ENST00000674546.1:c.814A>T (AIFM1)	ENSP00000501950.1:p.Arg272Trp
ENST00000674555.1:c.*549A>T (AIFM1)	ENSP00000502183.1:n.*549A>T
ENST00000674722.1:c.729A>T (AIFM1)	ENSP00000501693.1:p.Ile243=
ENST00000674957.1:c.515A>T (AIFM1)
ENST00000674997.1:c.671A>T (AIFM1)	ENSP00000502124.1:n.671A>T
ENST00000675037.1:c.814A>T (AIFM1)	ENSP00000501724.1:p.Arg272Trp
ENST00000675050.1:c.802A>T (AIFM1)	ENSP00000502606.1:p.Arg268Trp
ENST00000675092.1:c.814A>T (AIFM1)	ENSP00000501772.1:p.Arg272Trp
ENST00000675111.1:n.739A>T (AIFM1)
ENST00000675240.1:c.814A>T (AIFM1)	ENSP00000501907.1:p.Arg272Trp
ENST00000675427.1:c.814A>T (AIFM1)	ENSP00000501880.1:p.Arg272Trp
ENST00000675774.1:c.*598A>T (AIFM1)	ENSP00000502690.1:n.*598A>T
ENST00000675857.1:c.808A>T (AIFM1)	ENSP00000502721.1:p.Arg270Trp
ENST00000676048.1:n.3936A>T (AIFM1)
ENST00000676144.1:c.589A>T (AIFM1)
ENST00000676229.1:c.802A>T (AIFM1)	ENSP00000502184.1:p.Arg268Trp
ENST00000676328.1:c.811A>T (AIFM1)	ENSP00000502068.1:p.Arg271Trp
ENST00000676436.1:c.808A>T (AIFM1)	ENSP00000502669.1:p.Arg270Trp
ENST00000287295.7:c.814A>T (AIFM1)	ENSP00000287295.3:p.Arg272Trp
ENST00000319908.7:c.802A>T (AIFM1)	ENSP00000315122.3:p.Arg268Trp
ENST00000346424.6:c.107-2654A>T (AIFM1)	ENSP00000316320.3:n.107-2654A>T
ENST00000416073.6:c.814A>T (AIFM1)	ENSP00000402535.2:p.Arg272Trp
ENST00000527892.5:c.*539A>T (AIFM1)	ENSP00000435955.1:n.*539A>T
ENST00000533719.1:n.517A>T (AIFM1)
ENST00000535724.5:c.814A>T (AIFM1)	ENSP00000446113.2:p.Arg272Trp
NM_001130847.3:c.814A>T (AIFM1)	NP_001124319.1:p.Arg272Trp
NM_004208.3:c.814A>T (AIFM1)	NP_004199.1:p.Arg272Trp
NM_145812.2:c.802A>T (AIFM1)	NP_665811.1:p.Arg268Trp
NM_145813.2:c.107-2654A>T (AIFM1)	NP_665812.1:n.107-2654A>T
NR_132647.1:n.902A>T (AIFM1)
XM_017029963.2:c.30+22454T>A (RAB33A)	XP_016885452.1:n.30+22454T>A
NM_004208.4:c.814A>T (AIFM1) MANE Select	NP_004199.1:p.Arg272Trp
NM_001130847.4:c.814A>T (AIFM1)	NP_001124319.1:p.Arg272Trp
NM_145812.3:c.802A>T (AIFM1)	NP_665811.1:p.Arg268Trp
NR_132647.2:n.856A>T (AIFM1)