Canonical Allele Identifier: CA414582315

Gene: AIFM1 RAB33A

Linked Data

• MyVariant Identifiers: chrX:g.129273795T>A (hg19) ; chrX:g.130139820T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130139820T>A , CM000685.2:g.130139820T>A	GRCh38
NC_000023.10:g.129273795T>A , CM000685.1:g.129273795T>A	GRCh37
NC_000023.9:g.129101476T>A	NCBI36
NG_013217.1:g.31014A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.833A>T (AIFM1) MANE Select	ENSP00000287295.3:p.Lys278Met
ENST00000319908.8:c.830A>T (AIFM1)	ENSP00000315122.4:p.Lys277Met
ENST00000416073.7:c.827A>T (AIFM1)	ENSP00000402535.3:p.Lys276Met
ENST00000533719.2:n.625A>T (AIFM1)
ENST00000535724.6:c.833A>T (AIFM1)	ENSP00000446113.2:p.Lys278Met
ENST00000674546.1:c.833A>T (AIFM1)	ENSP00000501950.1:p.Lys278Met
ENST00000674555.1:c.*568A>T (AIFM1)	ENSP00000502183.1:n.*568A>T
ENST00000674722.1:c.*1A>T (AIFM1)	ENSP00000501693.1:n.*1A>T
ENST00000674957.1:c.534A>T (AIFM1)
ENST00000674997.1:c.690A>T (AIFM1)	ENSP00000502124.1:n.690A>T
ENST00000675037.1:c.833A>T (AIFM1)	ENSP00000501724.1:p.Lys278Met
ENST00000675050.1:c.821A>T (AIFM1)	ENSP00000502606.1:p.Lys274Met
ENST00000675092.1:c.833A>T (AIFM1)	ENSP00000501772.1:p.Lys278Met
ENST00000675111.1:n.758A>T (AIFM1)
ENST00000675240.1:c.833A>T (AIFM1)	ENSP00000501907.1:p.Lys278Met
ENST00000675427.1:c.833A>T (AIFM1)	ENSP00000501880.1:p.Lys278Met
ENST00000675774.1:c.*617A>T (AIFM1)	ENSP00000502690.1:n.*617A>T
ENST00000675857.1:c.827A>T (AIFM1)	ENSP00000502721.1:p.Lys276Met
ENST00000676048.1:n.3955A>T (AIFM1)
ENST00000676144.1:c.608A>T (AIFM1)
ENST00000676229.1:c.821A>T (AIFM1)	ENSP00000502184.1:p.Lys274Met
ENST00000676328.1:c.830A>T (AIFM1)	ENSP00000502068.1:p.Lys277Met
ENST00000676436.1:c.827A>T (AIFM1)	ENSP00000502669.1:p.Lys276Met
ENST00000287295.7:c.833A>T (AIFM1)	ENSP00000287295.3:p.Lys278Met
ENST00000319908.7:c.821A>T (AIFM1)	ENSP00000315122.3:p.Lys274Met
ENST00000346424.6:c.107-2635A>T (AIFM1)	ENSP00000316320.3:n.107-2635A>T
ENST00000416073.6:c.833A>T (AIFM1)	ENSP00000402535.2:p.Lys278Met
ENST00000527892.5:c.*558A>T (AIFM1)	ENSP00000435955.1:n.*558A>T
ENST00000533719.1:n.536A>T (AIFM1)
ENST00000535724.5:c.833A>T (AIFM1)	ENSP00000446113.2:p.Lys278Met
NM_001130847.3:c.833A>T (AIFM1)	NP_001124319.1:p.Lys278Met
NM_004208.3:c.833A>T (AIFM1)	NP_004199.1:p.Lys278Met
NM_145812.2:c.821A>T (AIFM1)	NP_665811.1:p.Lys274Met
NM_145813.2:c.107-2635A>T (AIFM1)	NP_665812.1:n.107-2635A>T
NR_132647.1:n.921A>T (AIFM1)
XM_017029963.2:c.30+22435T>A (RAB33A)	XP_016885452.1:n.30+22435T>A
NM_004208.4:c.833A>T (AIFM1) MANE Select	NP_004199.1:p.Lys278Met
NM_001130847.4:c.833A>T (AIFM1)	NP_001124319.1:p.Lys278Met
NM_145812.3:c.821A>T (AIFM1)	NP_665811.1:p.Lys274Met
NR_132647.2:n.875A>T (AIFM1)