Canonical Allele Identifier: CA232692

Gene: TPM3

Linked Data

• ClinVar Variation Id: 140499
• ClinVar RCV Id: RCV000128703
• dbSNP Id: rs199474716
• MyVariant Identifiers: chr1:g.154145429T>G (hg19) ; chr1:g.154172953T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154172953T>G , CM000663.2:g.154172953T>G	GRCh38
NC_000001.10:g.154145429T>G , CM000663.1:g.154145429T>G	GRCh37
NC_000001.9:g.152412053T>G	NCBI36
NG_008621.1:g.24181A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000611659.5:c.410A>C	ENSP00000480520.1:p.Glu137Ala
ENST00000312970.13:n.377A>C
ENST00000323144.12:c.410A>C	ENSP00000357518.4:p.Glu137Ala
ENST00000328159.9:c.410A>C	ENSP00000357520.1:p.Glu137Ala
ENST00000341372.8:c.*126A>C	ENSP00000339378.4:n.*126A>C
ENST00000341485.10:c.410A>C	ENSP00000341653.6:p.Glu137Ala
ENST00000368530.7:c.521A>C	ENSP00000357516.3:p.Glu174Ala
ENST00000368533.8:c.410A>C	ENSP00000357521.3:p.Glu137Ala
ENST00000651641.1:c.521A>C MANE Select	ENSP00000498577.1:p.Glu174Ala
ENST00000651644.1:c.521A>C	ENSP00000498648.1:p.Glu174Ala
ENST00000651873.1:c.431A>C
ENST00000271850.11:c.521A>C	ENSP00000271850.7:p.Glu174Ala
ENST00000302206.9:c.140A>C	ENSP00000307712.5:p.Glu47Ala
ENST00000312970.12:n.300A>C
ENST00000323144.11:c.410A>C	ENSP00000357518.4:p.Glu137Ala
ENST00000328159.8:c.410A>C	ENSP00000357520.1:p.Glu137Ala
ENST00000330188.13:c.410A>C	ENSP00000339035.7:p.Glu137Ala
ENST00000341372.7:c.335A>C	ENSP00000339378.3:p.Glu112Ala
ENST00000341485.9:c.362A>C	ENSP00000341653.5:p.Glu121Ala
ENST00000368527.7:n.486A>C
ENST00000368530.6:c.521A>C	ENSP00000357516.2:p.Glu174Ala
ENST00000368531.6:c.410A>C	ENSP00000357517.2:p.Glu137Ala
ENST00000368533.7:c.410A>C	ENSP00000357521.3:p.Glu137Ala
ENST00000469717.5:n.304A>C
ENST00000473036.2:n.465A>C
ENST00000505010.5:n.272A>C
ENST00000509409.5:c.*126A>C	ENSP00000426521.1:n.*126A>C
ENST00000509601.1:c.267-862A>C	ENSP00000422207.1:n.267-862A>C
ENST00000611659.4:c.410A>C	ENSP00000480520.1:p.Glu137Ala
NM_001043351.1:c.410A>C	NP_001036816.1:p.Glu137Ala
NM_001043352.1:c.410A>C	NP_001036817.1:p.Glu137Ala
NM_001043353.1:c.410A>C	NP_001036818.1:p.Glu137Ala
NM_001278188.1:c.212A>C	NP_001265117.1:p.Glu71Ala
NM_001278189.1:c.410A>C	NP_001265118.1:p.Glu137Ala
NM_001278190.1:c.410A>C	NP_001265119.1:p.Glu137Ala
NM_001278191.1:c.140A>C	NP_001265120.1:p.Glu47Ala
NM_152263.3:c.521A>C	NP_689476.2:p.Glu174Ala
NM_153649.3:c.410A>C	NP_705935.1:p.Glu137Ala
NR_103461.1:n.540A>C
XM_006711515.1:c.521A>C	XP_006711578.1:p.Glu174Ala
XM_006711517.1:c.521A>C	XP_006711580.1:p.Glu174Ala
XM_006711518.1:c.521A>C	XP_006711581.1:p.Glu174Ala
XM_006711519.1:c.521A>C	XP_006711582.1:p.Glu174Ala
XM_006711520.1:c.521A>C	XP_006711583.1:p.Glu174Ala
XM_006711521.1:c.521A>C	XP_006711584.1:p.Glu174Ala
XM_006711522.2:c.410A>C	XP_006711585.1:p.Glu137Ala
XM_006711523.2:c.410A>C	XP_006711586.1:p.Glu137Ala
XM_011509950.1:c.521A>C	XP_011508252.1:p.Glu174Ala
XM_011509951.1:c.521A>C	XP_011508253.1:p.Glu174Ala
XM_011509952.1:c.410A>C	XP_011508254.1:p.Glu137Ala
XM_011509953.1:c.410A>C	XP_011508255.1:p.Glu137Ala
XM_011509954.1:c.410A>C	XP_011508256.1:p.Glu137Ala
NM_001349679.1:c.410A>C	NP_001336608.1:p.Glu137Ala
NM_001364679.1:c.521A>C	NP_001351608.1:p.Glu174Ala
NM_001364680.1:c.521A>C	NP_001351609.1:p.Glu174Ala
NM_001364681.1:c.521A>C	NP_001351610.1:p.Glu174Ala
NM_001364682.1:c.521A>C	NP_001351611.1:p.Glu174Ala
NM_001364683.1:c.410A>C	NP_001351612.1:p.Glu137Ala
NM_152263.4:c.521A>C MANE Select	NP_689476.2:p.Glu174Ala
NM_001043351.2:c.410A>C	NP_001036816.1:p.Glu137Ala
NM_001043352.2:c.410A>C	NP_001036817.1:p.Glu137Ala
NM_001043353.2:c.410A>C	NP_001036818.1:p.Glu137Ala
NM_001278188.2:c.212A>C	NP_001265117.1:p.Glu71Ala
NM_001278189.2:c.410A>C	NP_001265118.1:p.Glu137Ala
NM_001278191.2:c.140A>C	NP_001265120.1:p.Glu47Ala
NM_001349679.2:c.410A>C	NP_001336608.1:p.Glu137Ala
NM_001364679.2:c.521A>C	NP_001351608.1:p.Glu174Ala
NM_001364680.2:c.521A>C	NP_001351609.1:p.Glu174Ala
NM_001364681.2:c.521A>C	NP_001351610.1:p.Glu174Ala
NM_153649.4:c.410A>C	NP_705935.1:p.Glu137Ala
NR_103461.2:n.509A>C
NM_001278190.2:c.410A>C	NP_001265119.1:p.Glu137Ala