Canonical Allele Identifier: CA414579143

Gene: AIFM1 RAB33A

Linked Data

• MyVariant Identifiers: chrX:g.129271064T>C (hg19) ; chrX:g.130137089T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130137089T>C , CM000685.2:g.130137089T>C	GRCh38
NC_000023.10:g.129271064T>C , CM000685.1:g.129271064T>C	GRCh37
NC_000023.9:g.129098745T>C	NCBI36
NG_013217.1:g.33745A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.1064A>G (AIFM1) MANE Select	ENSP00000287295.3:p.Lys355Arg
ENST00000319908.8:c.1061A>G (AIFM1)	ENSP00000315122.4:p.Lys354Arg
ENST00000416073.7:c.1058A>G (AIFM1)	ENSP00000402535.3:p.Lys353Arg
ENST00000533719.2:n.856A>G (AIFM1)
ENST00000535724.6:c.*292A>G (AIFM1)	ENSP00000446113.2:n.*292A>G
ENST00000674546.1:c.1064A>G (AIFM1)	ENSP00000501950.1:p.Lys355Arg
ENST00000674555.1:c.*799A>G (AIFM1)	ENSP00000502183.1:n.*799A>G
ENST00000674601.1:c.52A>G (AIFM1)
ENST00000674722.1:c.*232A>G (AIFM1)	ENSP00000501693.1:n.*232A>G
ENST00000674957.1:c.765A>G (AIFM1)
ENST00000674997.1:c.921A>G (AIFM1)	ENSP00000502124.1:n.921A>G
ENST00000675015.1:n.946A>G (AIFM1)
ENST00000675037.1:c.1064A>G (AIFM1)	ENSP00000501724.1:p.Lys355Arg
ENST00000675050.1:c.1052A>G (AIFM1)	ENSP00000502606.1:p.Lys351Arg
ENST00000675092.1:c.1064A>G (AIFM1)	ENSP00000501772.1:p.Lys355Arg
ENST00000675111.1:n.989A>G (AIFM1)
ENST00000675240.1:c.1064A>G (AIFM1)	ENSP00000501907.1:p.Lys355Arg
ENST00000675427.1:c.1064A>G (AIFM1)	ENSP00000501880.1:p.Lys355Arg
ENST00000675857.1:c.1058A>G (AIFM1)	ENSP00000502721.1:p.Lys353Arg
ENST00000676048.1:n.4186A>G (AIFM1)
ENST00000676144.1:c.839A>G (AIFM1)
ENST00000676229.1:c.1052A>G (AIFM1)	ENSP00000502184.1:p.Lys351Arg
ENST00000676328.1:c.1061A>G (AIFM1)	ENSP00000502068.1:p.Lys354Arg
ENST00000676436.1:c.1052A>G (AIFM1)	ENSP00000502669.1:p.Lys351Arg
ENST00000287295.7:c.1064A>G (AIFM1)	ENSP00000287295.3:p.Lys355Arg
ENST00000319908.7:c.1052A>G (AIFM1)	ENSP00000315122.3:p.Lys351Arg
ENST00000346424.6:c.203A>G (AIFM1)	ENSP00000316320.3:p.Lys68Arg
ENST00000416073.6:c.*292A>G (AIFM1)	ENSP00000402535.2:n.*292A>G
ENST00000460436.6:c.47A>G (AIFM1)	ENSP00000431222.1:p.Lys16Arg
ENST00000527892.5:c.*992A>G (AIFM1)	ENSP00000435955.1:n.*992A>G
ENST00000533719.1:n.767A>G (AIFM1)
ENST00000535724.5:c.*292A>G (AIFM1)	ENSP00000446113.2:n.*292A>G
NM_001130846.2:c.8A>G (AIFM1)	NP_001124318.1:p.Lys3Arg
NM_001130846.3:c.47A>G (AIFM1)	NP_001124318.2:p.Lys16Arg
NM_001130847.3:c.*292A>G (AIFM1)	NP_001124319.1:n.*292A>G
NM_004208.3:c.1064A>G (AIFM1)	NP_004199.1:p.Lys355Arg
NM_145812.2:c.1052A>G (AIFM1)	NP_665811.1:p.Lys351Arg
NM_145813.2:c.203A>G (AIFM1)	NP_665812.1:p.Lys68Arg
NR_132647.1:n.1355A>G (AIFM1)
XM_017029963.2:c.30+19704T>C (RAB33A)	XP_016885452.1:n.30+19704T>C
NM_004208.4:c.1064A>G (AIFM1) MANE Select	NP_004199.1:p.Lys355Arg
NM_001130846.4:c.47A>G (AIFM1)	NP_001124318.2:p.Lys16Arg
NM_001130847.4:c.*292A>G (AIFM1)	NP_001124319.1:n.*292A>G
NM_145812.3:c.1052A>G (AIFM1)	NP_665811.1:p.Lys351Arg
NR_132647.2:n.1309A>G (AIFM1)