Canonical Allele Identifier: CA414569829

Gene: AIFM1 RAB33A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130130154C>T , CM000685.2:g.130130154C>T	GRCh38
NC_000023.10:g.129264129C>T , CM000685.1:g.129264129C>T	GRCh37
NC_000023.9:g.129091810C>T	NCBI36
NG_013217.1:g.40680G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004208.4:c.1586G>A (AIFM1) MANE Select	NP_004199.1:p.Arg529Gln
ENST00000287295.8:c.1586G>A (AIFM1) MANE Select	ENSP00000287295.3:p.Arg529Gln
NM_001130846.2:c.530G>A (AIFM1)	NP_001124318.1:p.Arg177Gln
NM_001130846.3:c.569G>A (AIFM1)	NP_001124318.2:p.Arg190Gln
NM_001130846.4:c.569G>A (AIFM1)	NP_001124318.2:p.Arg190Gln
NM_001130847.3:c.*814G>A (AIFM1)	NP_001124319.1:n.*814G>A
NM_001130847.4:c.*814G>A (AIFM1)	NP_001124319.1:n.*814G>A
NM_004208.3:c.1586G>A (AIFM1)	NP_004199.1:p.Arg529Gln
NM_145812.2:c.1574G>A (AIFM1)	NP_665811.1:p.Arg525Gln
NM_145812.3:c.1574G>A (AIFM1)	NP_665811.1:p.Arg525Gln
NM_145813.2:c.725G>A (AIFM1)	NP_665812.1:p.Arg242Gln
NR_132647.1:n.1877G>A (AIFM1)
NR_132647.2:n.1831G>A (AIFM1)
ENST00000287295.7:c.1586G>A (AIFM1)	ENSP00000287295.3:p.Arg529Gln
ENST00000319908.7:c.1574G>A (AIFM1)	ENSP00000315122.3:p.Arg525Gln
ENST00000319908.8:c.1580G>A (AIFM1)	ENSP00000315122.4:p.Arg527Gln
ENST00000346424.6:c.725G>A (AIFM1)	ENSP00000316320.3:p.Arg242Gln
ENST00000416073.6:c.*814G>A (AIFM1)	ENSP00000402535.2:n.*814G>A
ENST00000416073.7:c.*250G>A (AIFM1)	ENSP00000402535.3:n.*250G>A
ENST00000460436.6:c.569G>A (AIFM1)	ENSP00000431222.1:p.Arg190Gln
ENST00000527892.5:c.*1514G>A (AIFM1)	ENSP00000435955.1:n.*1514G>A
ENST00000535724.5:c.*814G>A (AIFM1)	ENSP00000446113.2:n.*814G>A
ENST00000535724.6:c.*814G>A (AIFM1)	ENSP00000446113.2:n.*814G>A
ENST00000674546.1:c.1594G>A (AIFM1)	ENSP00000501950.1:p.Asp532Asn
ENST00000674555.1:c.*1321G>A (AIFM1)	ENSP00000502183.1:n.*1321G>A
ENST00000674582.1:n.1763G>A (AIFM1)
ENST00000674591.1:n.1072G>A (AIFM1)
ENST00000674601.1:c.433G>A (AIFM1)
ENST00000674722.1:c.*754G>A (AIFM1)	ENSP00000501693.1:n.*754G>A
ENST00000674957.1:c.1283G>A (AIFM1)
ENST00000674997.1:c.1443G>A (AIFM1)	ENSP00000502124.1:n.1443G>A
ENST00000675037.1:c.*132G>A (AIFM1)	ENSP00000501724.1:n.*132G>A
ENST00000675050.1:c.1574G>A (AIFM1)	ENSP00000502606.1:p.Arg525Gln
ENST00000675092.1:c.1613G>A (AIFM1)	ENSP00000501772.1:p.Arg538Gln
ENST00000675111.1:n.1511G>A (AIFM1)
ENST00000675240.1:c.1574-52G>A (AIFM1)	ENSP00000501907.1:n.1574-52G>A
ENST00000675427.1:c.1583G>A (AIFM1)	ENSP00000501880.1:p.Arg528Gln
ENST00000675857.1:c.1580G>A (AIFM1)	ENSP00000502721.1:p.Arg527Gln
ENST00000676048.1:n.4708G>A (AIFM1)
ENST00000676229.1:c.1574G>A (AIFM1)	ENSP00000502184.1:p.Arg525Gln
ENST00000676328.1:c.1583G>A (AIFM1)	ENSP00000502068.1:p.Arg528Gln
ENST00000676436.1:c.1574G>A (AIFM1)	ENSP00000502669.1:p.Arg525Gln
XM_017029963.2:c.30+12769C>T (RAB33A)	XP_016885452.1:n.30+12769C>T