Canonical Allele Identifier: CA518469696

Gene: AIFM1 RAB33A

Linked Data

• MyVariant Identifiers: chrX:g.129273779A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130139804A>G , CM000685.2:g.130139804A>G	GRCh38
NC_000023.10:g.129273779A>G , CM000685.1:g.129273779A>G	GRCh37
NC_000023.9:g.129101460A>G	NCBI36
NG_013217.1:g.31030T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.849T>C (AIFM1) MANE Select	ENSP00000287295.3:p.Leu283=
ENST00000319908.8:c.846T>C (AIFM1)	ENSP00000315122.4:p.Leu282=
ENST00000416073.7:c.843T>C (AIFM1)	ENSP00000402535.3:p.Leu281=
ENST00000533719.2:n.641T>C (AIFM1)
ENST00000535724.6:c.849T>C (AIFM1)	ENSP00000446113.2:p.Leu283=
ENST00000674546.1:c.849T>C (AIFM1)	ENSP00000501950.1:p.Leu283=
ENST00000674555.1:c.*584T>C (AIFM1)	ENSP00000502183.1:n.*584T>C
ENST00000674722.1:c.*17T>C (AIFM1)	ENSP00000501693.1:n.*17T>C
ENST00000674957.1:c.550T>C (AIFM1)
ENST00000674997.1:c.706T>C (AIFM1)	ENSP00000502124.1:n.706T>C
ENST00000675037.1:c.849T>C (AIFM1)	ENSP00000501724.1:p.Leu283=
ENST00000675050.1:c.837T>C (AIFM1)	ENSP00000502606.1:p.Leu279=
ENST00000675092.1:c.849T>C (AIFM1)	ENSP00000501772.1:p.Leu283=
ENST00000675111.1:n.774T>C (AIFM1)
ENST00000675240.1:c.849T>C (AIFM1)	ENSP00000501907.1:p.Leu283=
ENST00000675427.1:c.849T>C (AIFM1)	ENSP00000501880.1:p.Leu283=
ENST00000675774.1:c.*633T>C (AIFM1)	ENSP00000502690.1:n.*633T>C
ENST00000675857.1:c.843T>C (AIFM1)	ENSP00000502721.1:p.Leu281=
ENST00000676048.1:n.3971T>C (AIFM1)
ENST00000676144.1:c.624T>C (AIFM1)
ENST00000676229.1:c.837T>C (AIFM1)	ENSP00000502184.1:p.Leu279=
ENST00000676328.1:c.846T>C (AIFM1)	ENSP00000502068.1:p.Leu282=
ENST00000676436.1:c.843T>C (AIFM1)	ENSP00000502669.1:p.Leu281=
ENST00000287295.7:c.849T>C (AIFM1)	ENSP00000287295.3:p.Leu283=
ENST00000319908.7:c.837T>C (AIFM1)	ENSP00000315122.3:p.Leu279=
ENST00000346424.6:c.107-2619T>C (AIFM1)	ENSP00000316320.3:n.107-2619T>C
ENST00000416073.6:c.849T>C (AIFM1)	ENSP00000402535.2:p.Leu283=
ENST00000527892.5:c.*574T>C (AIFM1)	ENSP00000435955.1:n.*574T>C
ENST00000533719.1:n.552T>C (AIFM1)
ENST00000535724.5:c.849T>C (AIFM1)	ENSP00000446113.2:p.Leu283=
NM_001130847.3:c.849T>C (AIFM1)	NP_001124319.1:p.Leu283=
NM_004208.3:c.849T>C (AIFM1)	NP_004199.1:p.Leu283=
NM_145812.2:c.837T>C (AIFM1)	NP_665811.1:p.Leu279=
NM_145813.2:c.107-2619T>C (AIFM1)	NP_665812.1:n.107-2619T>C
NR_132647.1:n.937T>C (AIFM1)
XM_017029963.2:c.30+22419A>G (RAB33A)	XP_016885452.1:n.30+22419A>G
NM_004208.4:c.849T>C (AIFM1) MANE Select	NP_004199.1:p.Leu283=
NM_001130847.4:c.849T>C (AIFM1)	NP_001124319.1:p.Leu283=
NM_145812.3:c.837T>C (AIFM1)	NP_665811.1:p.Leu279=
NR_132647.2:n.891T>C (AIFM1)