Canonical Allele Identifier: CA018668
Gene: TPM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12458
dbSNP Id: rs104894505

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.63044072G>A , CM000677.2:g.63044072G>A GRCh38
NC_000015.9:g.63336271G>A , CM000677.1:g.63336271G>A GRCh37
NC_000015.8:g.61123324G>A NCBI36
NG_007557.1:g.6434G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559831.6:c.160G>A ENSP00000452977.2:p.Glu54Lys
ENST00000560131.2:n.239G>A
ENST00000561395.6:c.160G>A ENSP00000453092.2:p.Glu54Lys
ENST00000357980.9:c.286G>A ENSP00000350667.4:p.Glu96Lys
ENST00000403994.9:c.160G>A MANE Select ENSP00000385107.4:p.Glu54Lys
ENST00000559397.6:c.240+241G>A ENSP00000452879.1:n.240+241G>A
ENST00000560970.6:c.160G>A ENSP00000453062.2:p.Glu54Lys
ENST00000561266.6:c.240+241G>A ENSP00000453955.2:n.240+241G>A
ENST00000644204.1:n.106G>A
ENST00000651344.1:n.342G>A
ENST00000267996.11:c.240+241G>A ENSP00000267996.7:n.240+241G>A
ENST00000288398.10:c.160G>A ENSP00000288398.6:p.Glu54Lys
ENST00000357980.8:c.286G>A ENSP00000350667.4:p.Glu96Lys
ENST00000358278.7:c.160G>A ENSP00000351022.3:p.Glu54Lys
ENST00000403994.7:c.160G>A ENSP00000385107.3:p.Glu54Lys
ENST00000558314.5:n.560G>A
ENST00000558347.5:c.160G>A ENSP00000452887.1:p.Glu54Lys
ENST00000559397.5:c.240+241G>A ENSP00000452879.1:n.240+241G>A
ENST00000559556.5:c.160G>A ENSP00000453941.1:p.Glu54Lys
ENST00000560445.1:c.160G>A ENSP00000452999.1:p.Glu54Lys
ENST00000560970.5:c.102G>A
ENST00000560975.5:n.1148+241G>A
ENST00000561266.5:c.56+241G>A
ENST00000561425.5:c.*354+241G>A ENSP00000453324.1:n.*354+241G>A
ENST00000610733.1:c.160G>A ENSP00000477929.1:p.Glu54Lys
NM_000366.5:c.160G>A NP_000357.3:p.Glu54Lys
NM_001018004.1:c.160G>A NP_001018004.1:p.Glu54Lys
NM_001018005.1:c.160G>A NP_001018005.1:p.Glu54Lys
NM_001018006.1:c.160G>A NP_001018006.1:p.Glu54Lys
NM_001018007.1:c.240+241G>A NP_001018007.1:n.240+241G>A
NM_001018020.1:c.240+241G>A NP_001018020.1:n.240+241G>A
NM_001301244.1:c.240+241G>A NP_001288173.1:n.240+241G>A
XM_005254637.1:c.286G>A XP_005254694.1:p.Glu96Lys
XM_005254638.2:c.160G>A XP_005254695.1:p.Glu54Lys
XM_005254639.2:c.160G>A XP_005254696.1:p.Glu54Lys
XM_005254640.2:c.240+241G>A XP_005254697.1:n.240+241G>A
XM_005254641.2:c.240+241G>A XP_005254698.1:n.240+241G>A
XM_005254645.1:c.160G>A XP_005254702.1:p.Glu54Lys
XM_006720667.2:c.160G>A XP_006720730.1:p.Glu54Lys
XM_006720669.2:c.-219G>A XP_006720732.1:n.-219G>A
NM_001365776.1:c.160G>A NP_001352705.1:p.Glu54Lys
NM_001365777.1:c.160G>A NP_001352706.1:p.Glu54Lys
NM_001365778.1:c.286G>A NP_001352707.1:p.Glu96Lys
NM_001365779.1:c.160G>A NP_001352708.1:p.Glu54Lys
XM_005254639.4:c.160G>A XP_005254696.3:p.Glu54Lys
XM_006720667.4:c.160G>A XP_006720730.3:p.Glu54Lys
XM_017022534.2:c.160G>A XP_016878023.2:p.Glu54Lys
XM_017022535.2:c.240+241G>A XP_016878024.1:n.240+241G>A
XM_017022536.2:c.160G>A XP_016878025.2:p.Glu54Lys
XM_017022537.2:c.240+241G>A XP_016878026.1:n.240+241G>A
XM_017022538.2:c.160G>A XP_016878027.2:p.Glu54Lys
XM_017022539.2:c.160G>A XP_016878028.2:p.Glu54Lys
XM_024450040.1:c.-219G>A XP_024305808.1:n.-219G>A
NM_000366.6:c.160G>A NP_000357.3:p.Glu54Lys
NM_001018004.2:c.160G>A NP_001018004.1:p.Glu54Lys
NM_001018005.2:c.160G>A MANE Select NP_001018005.1:p.Glu54Lys
NM_001018006.2:c.160G>A NP_001018006.1:p.Glu54Lys
NM_001018007.2:c.240+241G>A NP_001018007.1:n.240+241G>A
NM_001018020.2:c.240+241G>A NP_001018020.1:n.240+241G>A
NM_001301244.2:c.240+241G>A NP_001288173.1:n.240+241G>A