Canonical Allele Identifier: CA1025387280

Gene: TOM1

Linked Data

• dbSNP Id: rs138747
• gnomAD v3: 22-35304495-A-G
• gnomAD v4: 22-35304495-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.35304495A>G , CM000684.2:g.35304495A>G	GRCh38
NC_000022.10:g.35700488A>G , CM000684.1:g.35700488A>G	GRCh37
NC_000022.9:g.34030488A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000449058.7:c.52+4515A>G MANE Select	ENSP00000394466.2:n.52+4515A>G
ENST00000382034.9:c.52+4515A>G	ENSP00000371465.6:n.52+4515A>G
ENST00000395736.7:c.52+4515A>G	ENSP00000379085.3:n.52+4515A>G
ENST00000404284.6:c.52+4515A>G	ENSP00000385906.2:n.52+4515A>G
ENST00000411850.5:c.52+4515A>G	ENSP00000413697.1:n.52+4515A>G
ENST00000424387.5:c.52+4515A>G	ENSP00000397492.1:n.52+4515A>G
ENST00000425375.5:c.52+4515A>G	ENSP00000394924.1:n.52+4515A>G
ENST00000439512.5:c.52+4515A>G	ENSP00000394944.1:n.52+4515A>G
ENST00000447733.5:c.-48+5117A>G	ENSP00000398876.1:n.-48+5117A>G
ENST00000449058.6:c.52+4515A>G	ENSP00000394466.2:n.52+4515A>G
ENST00000449508.1:c.52+4515A>G	ENSP00000390429.1:n.52+4515A>G
ENST00000456128.5:c.52+4515A>G	ENSP00000393714.1:n.52+4515A>G
ENST00000465529.1:n.115+4515A>G
ENST00000487670.1:n.110+4515A>G
ENST00000608674.5:c.-48+5001A>G	ENSP00000477471.1:n.-48+5001A>G
ENST00000608749.5:c.-48+5117A>G	ENSP00000476698.1:n.-48+5117A>G
NM_001135729.1:c.-48+5117A>G	NP_001129201.1:n.-48+5117A>G
NM_001135730.1:c.52+4515A>G	NP_001129202.1:n.52+4515A>G
NM_001135732.1:c.52+4515A>G	NP_001129204.1:n.52+4515A>G
NM_005488.2:c.52+4515A>G	NP_005479.1:n.52+4515A>G
NR_024194.1:n.177+4515A>G
NR_024195.1:n.177+4515A>G
XM_011529818.1:c.-256+4515A>G	XP_011528120.1:n.-256+4515A>G
XM_011529819.1:c.52+4515A>G	XP_011528121.1:n.52+4515A>G
XM_011529820.1:c.-326+4515A>G	XP_011528122.1:n.-326+4515A>G
NR_156428.1:n.177+4515A>G
XM_011529818.2:c.-256+4515A>G	XP_011528120.1:n.-256+4515A>G
XM_011529820.2:c.-326+4515A>G	XP_011528122.1:n.-326+4515A>G
XM_017028529.1:c.-256+4515A>G	XP_016884018.1:n.-256+4515A>G
NM_005488.3:c.52+4515A>G MANE Select	NP_005479.1:n.52+4515A>G
NR_024194.2:n.87+4515A>G
NR_024195.2:n.87+4515A>G
NR_156428.2:n.87+4515A>G
NM_001135729.2:c.-48+5117A>G	NP_001129201.1:n.-48+5117A>G
NM_001135730.2:c.52+4515A>G	NP_001129202.1:n.52+4515A>G
NM_001135732.2:c.52+4515A>G	NP_001129204.1:n.52+4515A>G