Canonical Allele Identifier: CA16043577

Gene: AIFM1 RAB33A

Linked Data

• ClinVar Variation Id: 374094
• ClinVar RCV Id: RCV000415225 ; RCV000789722 ; RCV001311404 ; RCV001385157
• dbSNP Id: rs1057518895
• MyVariant Identifiers: chrX:g.129271109A>G (hg19) ; chrX:g.130137134A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130137134A>G , CM000685.2:g.130137134A>G	GRCh38
NC_000023.10:g.129271109A>G , CM000685.1:g.129271109A>G	GRCh37
NC_000023.9:g.129098790A>G	NCBI36
NG_013217.1:g.33700T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.1019T>C (AIFM1) MANE Select	ENSP00000287295.3:p.Met340Thr
ENST00000319908.8:c.1016T>C (AIFM1)	ENSP00000315122.4:p.Met339Thr
ENST00000416073.7:c.1013T>C (AIFM1)	ENSP00000402535.3:p.Met338Thr
ENST00000533719.2:n.811T>C (AIFM1)
ENST00000535724.6:c.*247T>C (AIFM1)	ENSP00000446113.2:n.*247T>C
ENST00000674546.1:c.1019T>C (AIFM1)	ENSP00000501950.1:p.Met340Thr
ENST00000674555.1:c.*754T>C (AIFM1)	ENSP00000502183.1:n.*754T>C
ENST00000674601.1:c.7T>C (AIFM1)
ENST00000674722.1:c.*187T>C (AIFM1)	ENSP00000501693.1:n.*187T>C
ENST00000674957.1:c.720T>C (AIFM1)
ENST00000674997.1:c.876T>C (AIFM1)	ENSP00000502124.1:n.876T>C
ENST00000675015.1:n.901T>C (AIFM1)
ENST00000675037.1:c.1019T>C (AIFM1)	ENSP00000501724.1:p.Met340Thr
ENST00000675050.1:c.1007T>C (AIFM1)	ENSP00000502606.1:p.Met336Thr
ENST00000675092.1:c.1019T>C (AIFM1)	ENSP00000501772.1:p.Met340Thr
ENST00000675111.1:n.944T>C (AIFM1)
ENST00000675240.1:c.1019T>C (AIFM1)	ENSP00000501907.1:p.Met340Thr
ENST00000675427.1:c.1019T>C (AIFM1)	ENSP00000501880.1:p.Met340Thr
ENST00000675857.1:c.1013T>C (AIFM1)	ENSP00000502721.1:p.Met338Thr
ENST00000676048.1:n.4141T>C (AIFM1)
ENST00000676144.1:c.794T>C (AIFM1)
ENST00000676229.1:c.1007T>C (AIFM1)	ENSP00000502184.1:p.Met336Thr
ENST00000676328.1:c.1016T>C (AIFM1)	ENSP00000502068.1:p.Met339Thr
ENST00000676436.1:c.1007T>C (AIFM1)	ENSP00000502669.1:p.Met336Thr
ENST00000287295.7:c.1019T>C (AIFM1)	ENSP00000287295.3:p.Met340Thr
ENST00000319908.7:c.1007T>C (AIFM1)	ENSP00000315122.3:p.Met336Thr
ENST00000346424.6:c.158T>C (AIFM1)	ENSP00000316320.3:p.Met53Thr
ENST00000416073.6:c.*247T>C (AIFM1)	ENSP00000402535.2:n.*247T>C
ENST00000460436.6:c.2T>C (AIFM1)	ENSP00000431222.1:p.Met1Thr
ENST00000527892.5:c.*947T>C (AIFM1)	ENSP00000435955.1:n.*947T>C
ENST00000533719.1:n.722T>C (AIFM1)
ENST00000535724.5:c.*247T>C (AIFM1)	ENSP00000446113.2:n.*247T>C
NM_001130846.2:c.-38T>C (AIFM1)	NP_001124318.1:n.-38T>C
NM_001130846.3:c.2T>C (AIFM1)	NP_001124318.2:p.Met1Thr
NM_001130847.3:c.*247T>C (AIFM1)	NP_001124319.1:n.*247T>C
NM_004208.3:c.1019T>C (AIFM1)	NP_004199.1:p.Met340Thr
NM_145812.2:c.1007T>C (AIFM1)	NP_665811.1:p.Met336Thr
NM_145813.2:c.158T>C (AIFM1)	NP_665812.1:p.Met53Thr
NR_132647.1:n.1310T>C (AIFM1)
XM_017029963.2:c.30+19749A>G (RAB33A)	XP_016885452.1:n.30+19749A>G
NM_004208.4:c.1019T>C (AIFM1) MANE Select	NP_004199.1:p.Met340Thr
NM_001130846.4:c.2T>C (AIFM1)	NP_001124318.2:p.Met1Thr
NM_001130847.4:c.*247T>C (AIFM1)	NP_001124319.1:n.*247T>C
NM_145812.3:c.1007T>C (AIFM1)	NP_665811.1:p.Met336Thr
NR_132647.2:n.1264T>C (AIFM1)