Canonical Allele Identifier: CA144541

Gene: TPM3

Linked Data

• ClinVar Variation Id: 12450
• ClinVar RCV Id: RCV000013263 ; RCV000054415 ; RCV000128701 ; RCV000537032 ; RCV001420249
• dbSNP Id: rs121964852
• MyVariant Identifiers: chr1:g.154145447C>T (hg19) ; chr1:g.154172971C>T (hg38)
• PubMed: PMID:1221488 ; PMID:17376686 ; PMID:18300303 ; PMID:19553118 ; PMID:19953533 ; PMID:20301436

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154172971C>T , CM000663.2:g.154172971C>T	GRCh38
NC_000001.10:g.154145447C>T , CM000663.1:g.154145447C>T	GRCh37
NC_000001.9:g.152412071C>T	NCBI36
NG_008621.1:g.24163G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000611659.5:c.392G>A	ENSP00000480520.1:p.Arg131His
ENST00000312970.13:n.359G>A
ENST00000323144.12:c.392G>A	ENSP00000357518.4:p.Arg131His
ENST00000328159.9:c.392G>A	ENSP00000357520.1:p.Arg131His
ENST00000341372.8:c.*108G>A	ENSP00000339378.4:n.*108G>A
ENST00000341485.10:c.392G>A	ENSP00000341653.6:p.Arg131His
ENST00000368530.7:c.503G>A	ENSP00000357516.3:p.Arg168His
ENST00000368533.8:c.392G>A	ENSP00000357521.3:p.Arg131His
ENST00000651641.1:c.503G>A MANE Select	ENSP00000498577.1:p.Arg168His
ENST00000651644.1:c.503G>A	ENSP00000498648.1:p.Arg168His
ENST00000651873.1:c.413G>A
ENST00000271850.11:c.503G>A	ENSP00000271850.7:p.Arg168His
ENST00000302206.9:c.122G>A	ENSP00000307712.5:p.Arg41His
ENST00000312970.12:n.282G>A
ENST00000323144.11:c.392G>A	ENSP00000357518.4:p.Arg131His
ENST00000328159.8:c.392G>A	ENSP00000357520.1:p.Arg131His
ENST00000330188.13:c.392G>A	ENSP00000339035.7:p.Arg131His
ENST00000341372.7:c.317G>A	ENSP00000339378.3:p.Arg106His
ENST00000341485.9:c.344G>A	ENSP00000341653.5:p.Arg115His
ENST00000368527.7:n.468G>A
ENST00000368530.6:c.503G>A	ENSP00000357516.2:p.Arg168His
ENST00000368531.6:c.392G>A	ENSP00000357517.2:p.Arg131His
ENST00000368533.7:c.392G>A	ENSP00000357521.3:p.Arg131His
ENST00000469717.5:n.286G>A
ENST00000473036.2:n.447G>A
ENST00000505010.5:n.254G>A
ENST00000509409.5:c.*108G>A	ENSP00000426521.1:n.*108G>A
ENST00000509601.1:c.267-880G>A	ENSP00000422207.1:n.267-880G>A
ENST00000611659.4:c.392G>A	ENSP00000480520.1:p.Arg131His
NM_001043351.1:c.392G>A	NP_001036816.1:p.Arg131His
NM_001043352.1:c.392G>A	NP_001036817.1:p.Arg131His
NM_001043353.1:c.392G>A	NP_001036818.1:p.Arg131His
NM_001278188.1:c.194G>A	NP_001265117.1:p.Arg65His
NM_001278189.1:c.392G>A	NP_001265118.1:p.Arg131His
NM_001278190.1:c.392G>A	NP_001265119.1:p.Arg131His
NM_001278191.1:c.122G>A	NP_001265120.1:p.Arg41His
NM_152263.3:c.503G>A	NP_689476.2:p.Arg168His
NM_153649.3:c.392G>A	NP_705935.1:p.Arg131His
NR_103461.1:n.522G>A
XM_006711515.1:c.503G>A	XP_006711578.1:p.Arg168His
XM_006711517.1:c.503G>A	XP_006711580.1:p.Arg168His
XM_006711518.1:c.503G>A	XP_006711581.1:p.Arg168His
XM_006711519.1:c.503G>A	XP_006711582.1:p.Arg168His
XM_006711520.1:c.503G>A	XP_006711583.1:p.Arg168His
XM_006711521.1:c.503G>A	XP_006711584.1:p.Arg168His
XM_006711522.2:c.392G>A	XP_006711585.1:p.Arg131His
XM_006711523.2:c.392G>A	XP_006711586.1:p.Arg131His
XM_011509950.1:c.503G>A	XP_011508252.1:p.Arg168His
XM_011509951.1:c.503G>A	XP_011508253.1:p.Arg168His
XM_011509952.1:c.392G>A	XP_011508254.1:p.Arg131His
XM_011509953.1:c.392G>A	XP_011508255.1:p.Arg131His
XM_011509954.1:c.392G>A	XP_011508256.1:p.Arg131His
NM_001349679.1:c.392G>A	NP_001336608.1:p.Arg131His
NM_001364679.1:c.503G>A	NP_001351608.1:p.Arg168His
NM_001364680.1:c.503G>A	NP_001351609.1:p.Arg168His
NM_001364681.1:c.503G>A	NP_001351610.1:p.Arg168His
NM_001364682.1:c.503G>A	NP_001351611.1:p.Arg168His
NM_001364683.1:c.392G>A	NP_001351612.1:p.Arg131His
NM_152263.4:c.503G>A MANE Select	NP_689476.2:p.Arg168His
NM_001043351.2:c.392G>A	NP_001036816.1:p.Arg131His
NM_001043352.2:c.392G>A	NP_001036817.1:p.Arg131His
NM_001043353.2:c.392G>A	NP_001036818.1:p.Arg131His
NM_001278188.2:c.194G>A	NP_001265117.1:p.Arg65His
NM_001278189.2:c.392G>A	NP_001265118.1:p.Arg131His
NM_001278191.2:c.122G>A	NP_001265120.1:p.Arg41His
NM_001349679.2:c.392G>A	NP_001336608.1:p.Arg131His
NM_001364679.2:c.503G>A	NP_001351608.1:p.Arg168His
NM_001364680.2:c.503G>A	NP_001351609.1:p.Arg168His
NM_001364681.2:c.503G>A	NP_001351610.1:p.Arg168His
NM_153649.4:c.392G>A	NP_705935.1:p.Arg131His
NR_103461.2:n.491G>A
NM_001278190.2:c.392G>A	NP_001265119.1:p.Arg131His