Canonical Allele Identifier: CA018240

Gene: TPM1

Linked Data

• ClinVar Variation Id: 181668
• ClinVar RCV Id: RCV000159374 ; RCV000687999 ; RCV002354400
• dbSNP Id: rs730881141
• gnomAD v4: 15-63061751-C-T
• MyVariant Identifiers: chr15:g.63353950C>T (hg19) ; chr15:g.63061751C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.63061751C>T , CM000677.2:g.63061751C>T	GRCh38
NC_000015.9:g.63353950C>T , CM000677.1:g.63353950C>T	GRCh37
NC_000015.8:g.61141003C>T	NCBI36
NG_007557.1:g.24113C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558868.6:n.1385C>T
ENST00000559831.6:c.*21C>T	ENSP00000452977.2:n.*21C>T
ENST00000560131.2:n.750C>T
ENST00000560615.6:c.262-464C>T	ENSP00000453050.2:n.262-464C>T
ENST00000561395.6:c.*21C>T	ENSP00000453092.2:n.*21C>T
ENST00000651622.2:c.494C>T	ENSP00000498540.2:p.Thr165Met
ENST00000705544.1:c.289C>T
ENST00000317516.12:c.532-464C>T	ENSP00000322577.7:n.532-464C>T
ENST00000334895.10:c.494C>T	ENSP00000334624.4:p.Thr165Met
ENST00000357980.9:c.728C>T	ENSP00000350667.4:p.Thr243Met
ENST00000403994.9:c.602C>T MANE Select	ENSP00000385107.4:p.Thr201Met
ENST00000404484.9:c.532-464C>T	ENSP00000384315.4:n.532-464C>T
ENST00000558910.3:c.494C>T	ENSP00000452830.2:p.Thr165Met
ENST00000559281.6:c.494C>T	ENSP00000452658.1:p.Thr165Met
ENST00000559397.6:c.640-464C>T	ENSP00000452879.1:n.640-464C>T
ENST00000560970.6:c.602C>T	ENSP00000453062.2:p.Thr201Met
ENST00000561266.6:c.602C>T	ENSP00000453955.2:p.Thr201Met
ENST00000644204.1:n.624C>T
ENST00000651344.1:n.1118C>T
ENST00000651577.1:c.224C>T	ENSP00000498730.1:p.Thr75Met
ENST00000651590.1:c.494C>T	ENSP00000498284.1:p.Thr165Met
ENST00000651704.1:c.224C>T	ENSP00000498562.1:p.Thr75Met
ENST00000267996.11:c.602C>T	ENSP00000267996.7:p.Thr201Met
ENST00000288398.10:c.640-464C>T	ENSP00000288398.6:n.640-464C>T
ENST00000317516.11:c.532-464C>T	ENSP00000322577.7:n.532-464C>T
ENST00000334895.9:c.494C>T	ENSP00000334624.4:p.Thr165Met
ENST00000357980.8:c.728C>T	ENSP00000350667.4:p.Thr243Met
ENST00000358278.7:c.640-464C>T	ENSP00000351022.3:n.640-464C>T
ENST00000403994.7:c.602C>T	ENSP00000385107.3:p.Thr201Met
ENST00000404484.8:c.532-464C>T	ENSP00000384315.4:n.532-464C>T
ENST00000558264.5:c.*21C>T	ENSP00000452624.1:n.*21C>T
ENST00000558347.5:c.*48-464C>T	ENSP00000452887.1:n.*48-464C>T
ENST00000558544.5:c.*248-464C>T	ENSP00000453817.1:n.*248-464C>T
ENST00000559281.5:c.494C>T	ENSP00000452658.1:p.Thr165Met
ENST00000559397.5:c.640-464C>T	ENSP00000452879.1:n.640-464C>T
ENST00000559556.5:c.602C>T	ENSP00000453941.1:p.Thr201Met
ENST00000559831.5:c.450C>T	ENSP00000452977.1:n.450C>T
ENST00000560445.1:c.187-4210C>T	ENSP00000452999.1:n.187-4210C>T
ENST00000560615.5:c.262-464C>T	ENSP00000453050.1:n.262-464C>T
ENST00000560959.5:c.532-464C>T	ENSP00000453724.1:n.532-464C>T
ENST00000560970.5:c.544C>T
ENST00000560975.5:n.2025C>T
ENST00000561242.1:n.518C>T
ENST00000561266.5:c.418C>T
ENST00000561395.5:c.228C>T	ENSP00000453092.1:n.228C>T
NM_000366.5:c.640-464C>T	NP_000357.3:n.640-464C>T
NM_001018004.1:c.602C>T	NP_001018004.1:p.Thr201Met
NM_001018005.1:c.602C>T	NP_001018005.1:p.Thr201Met
NM_001018006.1:c.640-464C>T	NP_001018006.1:n.640-464C>T
NM_001018007.1:c.602C>T	NP_001018007.1:p.Thr201Met
NM_001018008.1:c.494C>T	NP_001018008.1:p.Thr165Met
NM_001018020.1:c.640-464C>T	NP_001018020.1:n.640-464C>T
NM_001301244.1:c.602C>T	NP_001288173.1:p.Thr201Met
NM_001301289.1:c.494C>T	NP_001288218.1:p.Thr165Met
XM_005254637.1:c.728C>T	XP_005254694.1:p.Thr243Met
XM_005254638.2:c.602C>T	XP_005254695.1:p.Thr201Met
XM_005254639.2:c.640-464C>T	XP_005254696.1:n.640-464C>T
XM_005254640.2:c.602C>T	XP_005254697.1:p.Thr201Met
XM_005254641.2:c.640-464C>T	XP_005254698.1:n.640-464C>T
XM_005254645.1:c.602C>T	XP_005254702.1:p.Thr201Met
XM_005254646.1:c.532-464C>T	XP_005254703.1:n.532-464C>T
XM_005254647.2:c.494C>T	XP_005254704.1:p.Thr165Met
XM_005254648.1:c.494C>T	XP_005254705.1:p.Thr165Met
XM_005254650.2:c.532-464C>T	XP_005254707.1:n.532-464C>T
XM_005254651.1:c.532-464C>T	XP_005254708.1:n.532-464C>T
XM_005254652.1:c.532-464C>T	XP_005254709.1:n.532-464C>T
XM_005254653.1:c.532-464C>T	XP_005254710.1:n.532-464C>T
XM_006720667.2:c.640-464C>T	XP_006720730.1:n.640-464C>T
XM_006720669.2:c.224C>T	XP_006720732.1:p.Thr75Met
NM_001330344.1:c.532-464C>T	NP_001317273.1:n.532-464C>T
NM_001330346.1:c.494C>T	NP_001317275.1:p.Thr165Met
NM_001330351.1:c.532-464C>T	NP_001317280.1:n.532-464C>T
NM_001365776.1:c.602C>T	NP_001352705.1:p.Thr201Met
NM_001365777.1:c.602C>T	NP_001352706.1:p.Thr201Met
NM_001365778.1:c.728C>T	NP_001352707.1:p.Thr243Met
NM_001365779.1:c.602C>T	NP_001352708.1:p.Thr201Met
NM_001365780.1:c.494C>T	NP_001352709.1:p.Thr165Met
NM_001365781.1:c.532-464C>T	NP_001352710.1:n.532-464C>T
NM_001365782.1:c.494C>T	NP_001352711.1:p.Thr165Met
XM_005254639.4:c.640-464C>T	XP_005254696.3:n.640-464C>T
XM_005254646.2:c.532-464C>T	XP_005254703.1:n.532-464C>T
XM_005254650.3:c.532-464C>T	XP_005254707.1:n.532-464C>T
XM_006720667.4:c.640-464C>T	XP_006720730.3:n.640-464C>T
XM_017022534.2:c.602C>T	XP_016878023.2:p.Thr201Met
XM_017022535.2:c.602C>T	XP_016878024.1:p.Thr201Met
XM_017022536.2:c.640-464C>T	XP_016878025.2:n.640-464C>T
XM_017022537.2:c.640-464C>T	XP_016878026.1:n.640-464C>T
XM_017022538.2:c.640-464C>T	XP_016878027.2:n.640-464C>T
XM_017022539.2:c.640-464C>T	XP_016878028.2:n.640-464C>T
XM_017022540.1:c.494C>T	XP_016878029.1:p.Thr165Met
XM_024450040.1:c.262-464C>T	XP_024305808.1:n.262-464C>T
XR_002957675.1:n.1134C>T
NM_000366.6:c.640-464C>T	NP_000357.3:n.640-464C>T
NM_001018004.2:c.602C>T	NP_001018004.1:p.Thr201Met
NM_001018005.2:c.602C>T MANE Select	NP_001018005.1:p.Thr201Met
NM_001018006.2:c.640-464C>T	NP_001018006.1:n.640-464C>T
NM_001018007.2:c.602C>T	NP_001018007.1:p.Thr201Met
NM_001018008.2:c.494C>T	NP_001018008.1:p.Thr165Met
NM_001018020.2:c.640-464C>T	NP_001018020.1:n.640-464C>T
NM_001301244.2:c.602C>T	NP_001288173.1:p.Thr201Met
NM_001301289.2:c.494C>T	NP_001288218.1:p.Thr165Met
NM_001330344.2:c.532-464C>T	NP_001317273.1:n.532-464C>T
NM_001330346.2:c.494C>T	NP_001317275.1:p.Thr165Met
NM_001330351.2:c.532-464C>T	NP_001317280.1:n.532-464C>T
NM_001365781.2:c.532-464C>T	NP_001352710.1:n.532-464C>T