Canonical Allele Identifier: CA392718181

Gene: TPM1

Linked Data

• ClinVar Variation Id: 370039
• ClinVar RCV Id: RCV000491976
• dbSNP Id: rs1114167357
• gnomAD v4: 15-63042945-T-C
• MyVariant Identifiers: chr15:g.63335144T>C (hg19) ; chr15:g.63042945T>C (hg38)
• PubMed: PMID:28359939

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.63042945T>C , CM000677.2:g.63042945T>C	GRCh38
NC_000015.9:g.63335144T>C , CM000677.1:g.63335144T>C	GRCh37
NC_000015.8:g.61122197T>C	NCBI36
NG_007557.1:g.5307T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559831.6:c.114+2T>C	ENSP00000452977.2:n.114+2T>C
ENST00000560131.2:n.193+2T>C
ENST00000561395.6:c.114+2T>C	ENSP00000453092.2:n.114+2T>C
ENST00000357980.9:c.114+2T>C	ENSP00000350667.4:n.114+2T>C
ENST00000403994.9:c.114+2T>C MANE Select	ENSP00000385107.4:n.114+2T>C
ENST00000559397.6:c.114+2T>C	ENSP00000452879.1:n.114+2T>C
ENST00000560970.6:c.114+2T>C	ENSP00000453062.2:n.114+2T>C
ENST00000561266.6:c.114+2T>C	ENSP00000453955.2:n.114+2T>C
ENST00000651344.1:n.296+2T>C
ENST00000267996.11:c.114+2T>C	ENSP00000267996.7:n.114+2T>C
ENST00000288398.10:c.114+2T>C	ENSP00000288398.6:n.114+2T>C
ENST00000357980.8:c.114+2T>C	ENSP00000350667.4:n.114+2T>C
ENST00000358278.7:c.114+2T>C	ENSP00000351022.3:n.114+2T>C
ENST00000403994.7:c.114+2T>C	ENSP00000385107.3:n.114+2T>C
ENST00000558314.5:n.193+2T>C
ENST00000558347.5:c.114+2T>C	ENSP00000452887.1:n.114+2T>C
ENST00000559397.5:c.114+2T>C	ENSP00000452879.1:n.114+2T>C
ENST00000559556.5:c.114+2T>C	ENSP00000453941.1:n.114+2T>C
ENST00000560445.1:c.114+2T>C	ENSP00000452999.1:n.114+2T>C
ENST00000560970.5:c.56+2T>C
ENST00000560975.5:n.262T>C
ENST00000561425.5:c.114+2T>C	ENSP00000453324.1:n.114+2T>C
ENST00000610733.1:c.114+2T>C	ENSP00000477929.1:n.114+2T>C
NM_000366.5:c.114+2T>C	NP_000357.3:n.114+2T>C
NM_001018004.1:c.114+2T>C	NP_001018004.1:n.114+2T>C
NM_001018005.1:c.114+2T>C	NP_001018005.1:n.114+2T>C
NM_001018006.1:c.114+2T>C	NP_001018006.1:n.114+2T>C
NM_001018007.1:c.114+2T>C	NP_001018007.1:n.114+2T>C
NM_001018020.1:c.114+2T>C	NP_001018020.1:n.114+2T>C
NM_001301244.1:c.114+2T>C	NP_001288173.1:n.114+2T>C
XM_005254637.1:c.114+2T>C	XP_005254694.1:n.114+2T>C
XM_005254638.2:c.114+2T>C	XP_005254695.1:n.114+2T>C
XM_005254639.2:c.114+2T>C	XP_005254696.1:n.114+2T>C
XM_005254640.2:c.114+2T>C	XP_005254697.1:n.114+2T>C
XM_005254641.2:c.114+2T>C	XP_005254698.1:n.114+2T>C
XM_005254645.1:c.114+2T>C	XP_005254702.1:n.114+2T>C
XM_006720667.2:c.114+2T>C	XP_006720730.1:n.114+2T>C
XM_006720669.2:c.-586+2T>C	XP_006720732.1:n.-586+2T>C
NM_001365776.1:c.114+2T>C	NP_001352705.1:n.114+2T>C
NM_001365777.1:c.114+2T>C	NP_001352706.1:n.114+2T>C
NM_001365778.1:c.114+2T>C	NP_001352707.1:n.114+2T>C
NM_001365779.1:c.114+2T>C	NP_001352708.1:n.114+2T>C
XM_005254639.4:c.114+2T>C	XP_005254696.3:n.114+2T>C
XM_006720667.4:c.114+2T>C	XP_006720730.3:n.114+2T>C
XM_017022534.2:c.114+2T>C	XP_016878023.2:n.114+2T>C
XM_017022535.2:c.114+2T>C	XP_016878024.1:n.114+2T>C
XM_017022536.2:c.114+2T>C	XP_016878025.2:n.114+2T>C
XM_017022537.2:c.114+2T>C	XP_016878026.1:n.114+2T>C
XM_017022538.2:c.114+2T>C	XP_016878027.2:n.114+2T>C
XM_017022539.2:c.114+2T>C	XP_016878028.2:n.114+2T>C
XM_024450040.1:c.-586+2T>C	XP_024305808.1:n.-586+2T>C
NM_000366.6:c.114+2T>C	NP_000357.3:n.114+2T>C
NM_001018004.2:c.114+2T>C	NP_001018004.1:n.114+2T>C
NM_001018005.2:c.114+2T>C MANE Select	NP_001018005.1:n.114+2T>C
NM_001018006.2:c.114+2T>C	NP_001018006.1:n.114+2T>C
NM_001018007.2:c.114+2T>C	NP_001018007.1:n.114+2T>C
NM_001018020.2:c.114+2T>C	NP_001018020.1:n.114+2T>C
NM_001301244.2:c.114+2T>C	NP_001288173.1:n.114+2T>C