Canonical Allele Identifier: CA406295783

Gene: TOMM40

Linked Data

• dbSNP Id: rs1246163172
• gnomAD v3: 19-44892402-C-T
• gnomAD v4: 19-44892402-C-T
• COSMIC: COSM1712490 ; COSM5891131
• MyVariant Identifiers: chr19:g.45395659C>T (hg19) ; chr19:g.44892402C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44892402C>T , CM000681.2:g.44892402C>T	GRCh38
NC_000019.9:g.45395659C>T , CM000681.1:g.45395659C>T	GRCh37
NC_000019.8:g.50087499C>T	NCBI36
NG_042854.1:g.6183C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426677.7:c.284C>T MANE Select	ENSP00000410339.1:p.Pro95Leu
ENST00000252487.9:c.284C>T	ENSP00000252487.4:p.Pro95Leu
ENST00000405636.6:c.284C>T	ENSP00000385184.2:p.Pro95Leu
ENST00000426677.6:c.284C>T	ENSP00000410339.1:p.Pro95Leu
ENST00000589649.1:c.284C>T	ENSP00000465032.1:p.Pro95Leu
ENST00000592434.5:c.284C>T	ENSP00000466084.1:p.Pro95Leu
NM_001128916.1:c.284C>T	NP_001122388.1:p.Pro95Leu
NM_001128917.1:c.284C>T	NP_001122389.1:p.Pro95Leu
NM_006114.2:c.284C>T	NP_006105.1:p.Pro95Leu
XM_005258411.2:c.284C>T	XP_005258468.1:p.Pro95Leu
XM_005258411.4:c.284C>T	XP_005258468.1:p.Pro95Leu
NM_001128917.2:c.284C>T MANE Select	NP_001122389.1:p.Pro95Leu
NM_006114.3:c.284C>T	NP_006105.1:p.Pro95Leu
NM_001128916.2:c.284C>T	NP_001122388.1:p.Pro95Leu