Canonical Allele Identifier: CA392724536

Gene: TPM1

Linked Data

• ClinVar Variation Id: 920908
• ClinVar RCV Id: RCV001179963 ; RCV004006616
• dbSNP Id: rs2035787414
• gnomAD v4: 15-63062576-G-A
• MyVariant Identifiers: chr15:g.63354775G>A (hg19) ; chr15:g.63062576G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.63062576G>A , CM000677.2:g.63062576G>A	GRCh38
NC_000015.9:g.63354775G>A , CM000677.1:g.63354775G>A	GRCh37
NC_000015.8:g.61141828G>A	NCBI36
NG_007557.1:g.24938G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558868.6:n.1486G>A
ENST00000559831.6:c.*122G>A	ENSP00000452977.2:n.*122G>A
ENST00000560131.2:n.851G>A
ENST00000560615.6:c.325G>A	ENSP00000453050.2:p.Ala109Thr
ENST00000561395.6:c.*122G>A	ENSP00000453092.2:n.*122G>A
ENST00000651622.2:c.595G>A	ENSP00000498540.2:p.Ala199Thr
ENST00000705544.1:c.390G>A
ENST00000317516.12:c.595G>A	ENSP00000322577.7:p.Ala199Thr
ENST00000334895.10:c.595G>A	ENSP00000334624.4:p.Ala199Thr
ENST00000357980.9:c.829G>A	ENSP00000350667.4:p.Ala277Thr
ENST00000403994.9:c.703G>A MANE Select	ENSP00000385107.4:p.Ala235Thr
ENST00000404484.9:c.595G>A	ENSP00000384315.4:p.Ala199Thr
ENST00000558910.3:c.595G>A	ENSP00000452830.2:p.Ala199Thr
ENST00000559281.6:c.595G>A	ENSP00000452658.1:p.Ala199Thr
ENST00000559397.6:c.703G>A	ENSP00000452879.1:p.Ala235Thr
ENST00000560970.6:c.703G>A	ENSP00000453062.2:p.Ala235Thr
ENST00000561266.6:c.703G>A	ENSP00000453955.2:p.Ala235Thr
ENST00000644204.1:n.725G>A
ENST00000651344.1:n.1219G>A
ENST00000651577.1:c.325G>A	ENSP00000498730.1:p.Ala109Thr
ENST00000651590.1:c.595G>A	ENSP00000498284.1:p.Ala199Thr
ENST00000651622.1:c.35G>A
ENST00000651704.1:c.325G>A	ENSP00000498562.1:p.Ala109Thr
ENST00000267996.11:c.703G>A	ENSP00000267996.7:p.Ala235Thr
ENST00000288398.10:c.703G>A	ENSP00000288398.6:p.Ala235Thr
ENST00000317516.11:c.595G>A	ENSP00000322577.7:p.Ala199Thr
ENST00000334895.9:c.595G>A	ENSP00000334624.4:p.Ala199Thr
ENST00000357980.8:c.829G>A	ENSP00000350667.4:p.Ala277Thr
ENST00000358278.7:c.703G>A	ENSP00000351022.3:p.Ala235Thr
ENST00000403994.7:c.703G>A	ENSP00000385107.3:p.Ala235Thr
ENST00000404484.8:c.595G>A	ENSP00000384315.4:p.Ala199Thr
ENST00000558072.5:n.222G>A
ENST00000558264.5:c.*122G>A	ENSP00000452624.1:n.*122G>A
ENST00000558347.5:c.*111G>A	ENSP00000452887.1:n.*111G>A
ENST00000558544.5:c.*311G>A	ENSP00000453817.1:n.*311G>A
ENST00000559108.1:n.171G>A
ENST00000559281.5:c.595G>A	ENSP00000452658.1:p.Ala199Thr
ENST00000559397.5:c.703G>A	ENSP00000452879.1:p.Ala235Thr
ENST00000559556.5:c.703G>A	ENSP00000453941.1:p.Ala235Thr
ENST00000559831.5:c.551G>A	ENSP00000452977.1:n.551G>A
ENST00000560445.1:c.187-3385G>A	ENSP00000452999.1:n.187-3385G>A
ENST00000560959.5:c.595G>A	ENSP00000453724.1:p.Ala199Thr
ENST00000560970.5:c.645G>A
ENST00000560975.5:n.2552G>A
ENST00000561266.5:c.519G>A
ENST00000561395.5:c.329G>A	ENSP00000453092.1:n.329G>A
NM_000366.5:c.703G>A	NP_000357.3:p.Ala235Thr
NM_001018004.1:c.703G>A	NP_001018004.1:p.Ala235Thr
NM_001018005.1:c.703G>A	NP_001018005.1:p.Ala235Thr
NM_001018006.1:c.703G>A	NP_001018006.1:p.Ala235Thr
NM_001018007.1:c.703G>A	NP_001018007.1:p.Ala235Thr
NM_001018008.1:c.595G>A	NP_001018008.1:p.Ala199Thr
NM_001018020.1:c.703G>A	NP_001018020.1:p.Ala235Thr
NM_001301244.1:c.703G>A	NP_001288173.1:p.Ala235Thr
NM_001301289.1:c.595G>A	NP_001288218.1:p.Ala199Thr
XM_005254637.1:c.829G>A	XP_005254694.1:p.Ala277Thr
XM_005254638.2:c.703G>A	XP_005254695.1:p.Ala235Thr
XM_005254639.2:c.703G>A	XP_005254696.1:p.Ala235Thr
XM_005254640.2:c.703G>A	XP_005254697.1:p.Ala235Thr
XM_005254641.2:c.703G>A	XP_005254698.1:p.Ala235Thr
XM_005254645.1:c.703G>A	XP_005254702.1:p.Ala235Thr
XM_005254646.1:c.595G>A	XP_005254703.1:p.Ala199Thr
XM_005254647.2:c.595G>A	XP_005254704.1:p.Ala199Thr
XM_005254648.1:c.595G>A	XP_005254705.1:p.Ala199Thr
XM_005254650.2:c.595G>A	XP_005254707.1:p.Ala199Thr
XM_005254651.1:c.595G>A	XP_005254708.1:p.Ala199Thr
XM_005254652.1:c.595G>A	XP_005254709.1:p.Ala199Thr
XM_005254653.1:c.595G>A	XP_005254710.1:p.Ala199Thr
XM_006720667.2:c.703G>A	XP_006720730.1:p.Ala235Thr
XM_006720669.2:c.325G>A	XP_006720732.1:p.Ala109Thr
NM_001330344.1:c.595G>A	NP_001317273.1:p.Ala199Thr
NM_001330346.1:c.595G>A	NP_001317275.1:p.Ala199Thr
NM_001330351.1:c.595G>A	NP_001317280.1:p.Ala199Thr
NM_001365776.1:c.703G>A	NP_001352705.1:p.Ala235Thr
NM_001365777.1:c.703G>A	NP_001352706.1:p.Ala235Thr
NM_001365778.1:c.829G>A	NP_001352707.1:p.Ala277Thr
NM_001365779.1:c.703G>A	NP_001352708.1:p.Ala235Thr
NM_001365780.1:c.595G>A	NP_001352709.1:p.Ala199Thr
NM_001365781.1:c.595G>A	NP_001352710.1:p.Ala199Thr
NM_001365782.1:c.595G>A	NP_001352711.1:p.Ala199Thr
XM_005254639.4:c.703G>A	XP_005254696.3:p.Ala235Thr
XM_005254646.2:c.595G>A	XP_005254703.1:p.Ala199Thr
XM_005254650.3:c.595G>A	XP_005254707.1:p.Ala199Thr
XM_006720667.4:c.703G>A	XP_006720730.3:p.Ala235Thr
XM_017022534.2:c.703G>A	XP_016878023.2:p.Ala235Thr
XM_017022535.2:c.703G>A	XP_016878024.1:p.Ala235Thr
XM_017022536.2:c.703G>A	XP_016878025.2:p.Ala235Thr
XM_017022537.2:c.703G>A	XP_016878026.1:p.Ala235Thr
XM_017022538.2:c.703G>A	XP_016878027.2:p.Ala235Thr
XM_017022539.2:c.703G>A	XP_016878028.2:p.Ala235Thr
XM_017022540.1:c.595G>A	XP_016878029.1:p.Ala199Thr
XM_024450040.1:c.325G>A	XP_024305808.1:p.Ala109Thr
XR_002957675.1:n.1661G>A
NM_000366.6:c.703G>A	NP_000357.3:p.Ala235Thr
NM_001018004.2:c.703G>A	NP_001018004.1:p.Ala235Thr
NM_001018005.2:c.703G>A MANE Select	NP_001018005.1:p.Ala235Thr
NM_001018006.2:c.703G>A	NP_001018006.1:p.Ala235Thr
NM_001018007.2:c.703G>A	NP_001018007.1:p.Ala235Thr
NM_001018008.2:c.595G>A	NP_001018008.1:p.Ala199Thr
NM_001018020.2:c.703G>A	NP_001018020.1:p.Ala235Thr
NM_001301244.2:c.703G>A	NP_001288173.1:p.Ala235Thr
NM_001301289.2:c.595G>A	NP_001288218.1:p.Ala199Thr
NM_001330344.2:c.595G>A	NP_001317273.1:p.Ala199Thr
NM_001330346.2:c.595G>A	NP_001317275.1:p.Ala199Thr
NM_001330351.2:c.595G>A	NP_001317280.1:p.Ala199Thr
NM_001365781.2:c.595G>A	NP_001352710.1:p.Ala199Thr