Canonical Allele Identifier: CA414582338

Gene: AIFM1 RAB33A

Linked Data

• MyVariant Identifiers: chrX:g.129273798A>G (hg19) ; chrX:g.130139823A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130139823A>G , CM000685.2:g.130139823A>G	GRCh38
NC_000023.10:g.129273798A>G , CM000685.1:g.129273798A>G	GRCh37
NC_000023.9:g.129101479A>G	NCBI36
NG_013217.1:g.31011T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.830T>C (AIFM1) MANE Select	ENSP00000287295.3:p.Val277Ala
ENST00000319908.8:c.827T>C (AIFM1)	ENSP00000315122.4:p.Val276Ala
ENST00000416073.7:c.824T>C (AIFM1)	ENSP00000402535.3:p.Val275Ala
ENST00000533719.2:n.622T>C (AIFM1)
ENST00000535724.6:c.830T>C (AIFM1)	ENSP00000446113.2:p.Val277Ala
ENST00000674546.1:c.830T>C (AIFM1)	ENSP00000501950.1:p.Val277Ala
ENST00000674555.1:c.*565T>C (AIFM1)	ENSP00000502183.1:n.*565T>C
ENST00000674722.1:c.745T>C (AIFM1)	ENSP00000501693.1:p.Ter249Arg
ENST00000674957.1:c.531T>C (AIFM1)
ENST00000674997.1:c.687T>C (AIFM1)	ENSP00000502124.1:n.687T>C
ENST00000675037.1:c.830T>C (AIFM1)	ENSP00000501724.1:p.Val277Ala
ENST00000675050.1:c.818T>C (AIFM1)	ENSP00000502606.1:p.Val273Ala
ENST00000675092.1:c.830T>C (AIFM1)	ENSP00000501772.1:p.Val277Ala
ENST00000675111.1:n.755T>C (AIFM1)
ENST00000675240.1:c.830T>C (AIFM1)	ENSP00000501907.1:p.Val277Ala
ENST00000675427.1:c.830T>C (AIFM1)	ENSP00000501880.1:p.Val277Ala
ENST00000675774.1:c.*614T>C (AIFM1)	ENSP00000502690.1:n.*614T>C
ENST00000675857.1:c.824T>C (AIFM1)	ENSP00000502721.1:p.Val275Ala
ENST00000676048.1:n.3952T>C (AIFM1)
ENST00000676144.1:c.605T>C (AIFM1)
ENST00000676229.1:c.818T>C (AIFM1)	ENSP00000502184.1:p.Val273Ala
ENST00000676328.1:c.827T>C (AIFM1)	ENSP00000502068.1:p.Val276Ala
ENST00000676436.1:c.824T>C (AIFM1)	ENSP00000502669.1:p.Val275Ala
ENST00000287295.7:c.830T>C (AIFM1)	ENSP00000287295.3:p.Val277Ala
ENST00000319908.7:c.818T>C (AIFM1)	ENSP00000315122.3:p.Val273Ala
ENST00000346424.6:c.107-2638T>C (AIFM1)	ENSP00000316320.3:n.107-2638T>C
ENST00000416073.6:c.830T>C (AIFM1)	ENSP00000402535.2:p.Val277Ala
ENST00000527892.5:c.*555T>C (AIFM1)	ENSP00000435955.1:n.*555T>C
ENST00000533719.1:n.533T>C (AIFM1)
ENST00000535724.5:c.830T>C (AIFM1)	ENSP00000446113.2:p.Val277Ala
NM_001130847.3:c.830T>C (AIFM1)	NP_001124319.1:p.Val277Ala
NM_004208.3:c.830T>C (AIFM1)	NP_004199.1:p.Val277Ala
NM_145812.2:c.818T>C (AIFM1)	NP_665811.1:p.Val273Ala
NM_145813.2:c.107-2638T>C (AIFM1)	NP_665812.1:n.107-2638T>C
NR_132647.1:n.918T>C (AIFM1)
XM_017029963.2:c.30+22438A>G (RAB33A)	XP_016885452.1:n.30+22438A>G
NM_004208.4:c.830T>C (AIFM1) MANE Select	NP_004199.1:p.Val277Ala
NM_001130847.4:c.830T>C (AIFM1)	NP_001124319.1:p.Val277Ala
NM_145812.3:c.818T>C (AIFM1)	NP_665811.1:p.Val273Ala
NR_132647.2:n.872T>C (AIFM1)