Canonical Allele Identifier: CA2694683225

Gene: AIFM1 RAB33A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130129636A>G , CM000685.2:g.130129636A>G	GRCh38
NC_000023.10:g.129263611A>G , CM000685.1:g.129263611A>G	GRCh37
NC_000023.9:g.129091292A>G	NCBI36
NG_013217.1:g.41198T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004208.4:c.1771-8T>C (AIFM1) MANE Select	NP_004199.1:n.1771-8T>C
ENST00000287295.8:c.1771-8T>C (AIFM1) MANE Select	ENSP00000287295.3:n.1771-8T>C
NM_001130846.2:c.715-8T>C (AIFM1)	NP_001124318.1:n.715-8T>C
NM_001130846.3:c.754-8T>C (AIFM1)	NP_001124318.2:n.754-8T>C
NM_001130846.4:c.754-8T>C (AIFM1)	NP_001124318.2:n.754-8T>C
NM_001130847.3:c.*999-8T>C (AIFM1)	NP_001124319.1:n.*999-8T>C
NM_001130847.4:c.*999-8T>C (AIFM1)	NP_001124319.1:n.*999-8T>C
NM_004208.3:c.1771-8T>C (AIFM1)	NP_004199.1:n.1771-8T>C
NM_145812.2:c.1759-8T>C (AIFM1)	NP_665811.1:n.1759-8T>C
NM_145812.3:c.1759-8T>C (AIFM1)	NP_665811.1:n.1759-8T>C
NM_145813.2:c.910-8T>C (AIFM1)	NP_665812.1:n.910-8T>C
NR_132647.1:n.2062-8T>C (AIFM1)
NR_132647.2:n.2016-8T>C (AIFM1)
ENST00000287295.7:c.1771-8T>C (AIFM1)	ENSP00000287295.3:n.1771-8T>C
ENST00000319908.7:c.1759-8T>C (AIFM1)	ENSP00000315122.3:n.1759-8T>C
ENST00000319908.8:c.1765-8T>C (AIFM1)	ENSP00000315122.4:n.1765-8T>C
ENST00000346424.6:c.910-8T>C (AIFM1)	ENSP00000316320.3:n.910-8T>C
ENST00000416073.6:c.*999-8T>C (AIFM1)	ENSP00000402535.2:n.*999-8T>C
ENST00000416073.7:c.*435-8T>C (AIFM1)	ENSP00000402535.3:n.*435-8T>C
ENST00000460436.6:c.754-8T>C (AIFM1)	ENSP00000431222.1:n.754-8T>C
ENST00000527892.5:c.*1699-8T>C (AIFM1)	ENSP00000435955.1:n.*1699-8T>C
ENST00000535724.5:c.*999-8T>C (AIFM1)	ENSP00000446113.2:n.*999-8T>C
ENST00000535724.6:c.*999-8T>C (AIFM1)	ENSP00000446113.2:n.*999-8T>C
ENST00000674546.1:c.*9-8T>C (AIFM1)	ENSP00000501950.1:n.*9-8T>C
ENST00000674555.1:c.*1506-8T>C (AIFM1)	ENSP00000502183.1:n.*1506-8T>C
ENST00000674582.1:n.1948-8T>C (AIFM1)
ENST00000674591.1:n.1257-8T>C (AIFM1)
ENST00000674601.1:c.618-8T>C (AIFM1)
ENST00000674722.1:c.*939-8T>C (AIFM1)	ENSP00000501693.1:n.*939-8T>C
ENST00000674957.1:c.1468-8T>C (AIFM1)
ENST00000674997.1:c.1628-8T>C (AIFM1)	ENSP00000502124.1:n.1628-8T>C
ENST00000675037.1:c.*317-8T>C (AIFM1)	ENSP00000501724.1:n.*317-8T>C
ENST00000675050.1:c.1759-8T>C (AIFM1)	ENSP00000502606.1:n.1759-8T>C
ENST00000675092.1:c.1798-8T>C (AIFM1)	ENSP00000501772.1:n.1798-8T>C
ENST00000675111.1:n.1696-8T>C (AIFM1)
ENST00000675240.1:c.*9-8T>C (AIFM1)	ENSP00000501907.1:n.*9-8T>C
ENST00000675427.1:c.1768-8T>C (AIFM1)	ENSP00000501880.1:n.1768-8T>C
ENST00000675857.1:c.1765-8T>C (AIFM1)	ENSP00000502721.1:n.1765-8T>C
ENST00000676048.1:n.4893-8T>C (AIFM1)
ENST00000676229.1:c.1759-8T>C (AIFM1)	ENSP00000502184.1:n.1759-8T>C
ENST00000676328.1:c.1768-8T>C (AIFM1)	ENSP00000502068.1:n.1768-8T>C
ENST00000676436.1:c.1759-8T>C (AIFM1)	ENSP00000502669.1:n.1759-8T>C
XM_017029963.2:c.30+12251A>G (RAB33A)	XP_016885452.1:n.30+12251A>G