Canonical Allele Identifier: CA392718748

Gene: TPM1

Linked Data

• ClinVar Variation Id: 1790551
• ClinVar RCV Id: RCV002459563 ; RCV003748438
• MyVariant Identifiers: chr15:g.63336349G>A (hg19) ; chr15:g.63044150G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.63044150G>A , CM000677.2:g.63044150G>A	GRCh38
NC_000015.9:g.63336349G>A , CM000677.1:g.63336349G>A	GRCh37
NC_000015.8:g.61123402G>A	NCBI36
NG_007557.1:g.6512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559831.6:c.238G>A	ENSP00000452977.2:p.Asp80Asn
ENST00000560131.2:n.317G>A
ENST00000561395.6:c.238G>A	ENSP00000453092.2:p.Asp80Asn
ENST00000357980.9:c.364G>A	ENSP00000350667.4:p.Asp122Asn
ENST00000403994.9:c.238G>A MANE Select	ENSP00000385107.4:p.Asp80Asn
ENST00000559397.6:c.240+319G>A	ENSP00000452879.1:n.240+319G>A
ENST00000560970.6:c.238G>A	ENSP00000453062.2:p.Asp80Asn
ENST00000561266.6:c.240+319G>A	ENSP00000453955.2:n.240+319G>A
ENST00000644204.1:n.184G>A
ENST00000651344.1:n.420G>A
ENST00000267996.11:c.240+319G>A	ENSP00000267996.7:n.240+319G>A
ENST00000288398.10:c.238G>A	ENSP00000288398.6:p.Asp80Asn
ENST00000357980.8:c.364G>A	ENSP00000350667.4:p.Asp122Asn
ENST00000358278.7:c.238G>A	ENSP00000351022.3:p.Asp80Asn
ENST00000403994.7:c.238G>A	ENSP00000385107.3:p.Asp80Asn
ENST00000558314.5:n.638G>A
ENST00000558347.5:c.238G>A	ENSP00000452887.1:p.Asp80Asn
ENST00000559397.5:c.240+319G>A	ENSP00000452879.1:n.240+319G>A
ENST00000559556.5:c.238G>A	ENSP00000453941.1:p.Asp80Asn
ENST00000559831.5:c.10G>A	ENSP00000452977.1:p.Asp4Asn
ENST00000560445.1:c.186+52G>A	ENSP00000452999.1:n.186+52G>A
ENST00000560970.5:c.180G>A
ENST00000560975.5:n.1148+319G>A
ENST00000561266.5:c.56+319G>A
ENST00000561425.5:c.*354+319G>A	ENSP00000453324.1:n.*354+319G>A
ENST00000610733.1:c.238G>A	ENSP00000477929.1:p.Asp80Asn
NM_000366.5:c.238G>A	NP_000357.3:p.Asp80Asn
NM_001018004.1:c.238G>A	NP_001018004.1:p.Asp80Asn
NM_001018005.1:c.238G>A	NP_001018005.1:p.Asp80Asn
NM_001018006.1:c.238G>A	NP_001018006.1:p.Asp80Asn
NM_001018007.1:c.240+319G>A	NP_001018007.1:n.240+319G>A
NM_001018020.1:c.240+319G>A	NP_001018020.1:n.240+319G>A
NM_001301244.1:c.240+319G>A	NP_001288173.1:n.240+319G>A
XM_005254637.1:c.364G>A	XP_005254694.1:p.Asp122Asn
XM_005254638.2:c.238G>A	XP_005254695.1:p.Asp80Asn
XM_005254639.2:c.238G>A	XP_005254696.1:p.Asp80Asn
XM_005254640.2:c.240+319G>A	XP_005254697.1:n.240+319G>A
XM_005254641.2:c.240+319G>A	XP_005254698.1:n.240+319G>A
XM_005254645.1:c.238G>A	XP_005254702.1:p.Asp80Asn
XM_006720667.2:c.238G>A	XP_006720730.1:p.Asp80Asn
XM_006720669.2:c.-141G>A	XP_006720732.1:n.-141G>A
NM_001365776.1:c.238G>A	NP_001352705.1:p.Asp80Asn
NM_001365777.1:c.238G>A	NP_001352706.1:p.Asp80Asn
NM_001365778.1:c.364G>A	NP_001352707.1:p.Asp122Asn
NM_001365779.1:c.238G>A	NP_001352708.1:p.Asp80Asn
XM_005254639.4:c.238G>A	XP_005254696.3:p.Asp80Asn
XM_006720667.4:c.238G>A	XP_006720730.3:p.Asp80Asn
XM_017022534.2:c.238G>A	XP_016878023.2:p.Asp80Asn
XM_017022535.2:c.240+319G>A	XP_016878024.1:n.240+319G>A
XM_017022536.2:c.238G>A	XP_016878025.2:p.Asp80Asn
XM_017022537.2:c.240+319G>A	XP_016878026.1:n.240+319G>A
XM_017022538.2:c.238G>A	XP_016878027.2:p.Asp80Asn
XM_017022539.2:c.238G>A	XP_016878028.2:p.Asp80Asn
XM_024450040.1:c.-141G>A	XP_024305808.1:n.-141G>A
NM_000366.6:c.238G>A	NP_000357.3:p.Asp80Asn
NM_001018004.2:c.238G>A	NP_001018004.1:p.Asp80Asn
NM_001018005.2:c.238G>A MANE Select	NP_001018005.1:p.Asp80Asn
NM_001018006.2:c.238G>A	NP_001018006.1:p.Asp80Asn
NM_001018007.2:c.240+319G>A	NP_001018007.1:n.240+319G>A
NM_001018020.2:c.240+319G>A	NP_001018020.1:n.240+319G>A
NM_001301244.2:c.240+319G>A	NP_001288173.1:n.240+319G>A