Canonical Allele Identifier: CA30768956
Community Standard Title: NM_152263.4(TPM3):c.612C>T (p.Asn204=)
Gene: TPM3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154171443G>A , CM000663.2:g.154171443G>A GRCh38
NC_000001.10:g.154143919G>A , CM000663.1:g.154143919G>A GRCh37
NC_000001.9:g.152410543G>A NCBI36
NG_008621.1:g.25691C>T

Transcript Alleles

HGVS Amino-acid Change
NM_152263.4:c.612C>T MANE Select NP_689476.2:p.Asn204=
ENST00000651641.1:c.612C>T MANE Select ENSP00000498577.1:p.Asn204=
NM_001043351.1:c.501C>T NP_001036816.1:p.Asn167=
NM_001043351.2:c.501C>T NP_001036816.1:p.Asn167=
NM_001043352.1:c.531+586C>T NP_001036817.1:n.531+586C>T
NM_001043352.2:c.531+586C>T NP_001036817.1:n.531+586C>T
NM_001043353.1:c.501C>T NP_001036818.1:p.Asn167=
NM_001043353.2:c.501C>T NP_001036818.1:p.Asn167=
NM_001278188.1:c.333+586C>T NP_001265117.1:n.333+586C>T
NM_001278188.2:c.333+586C>T NP_001265117.1:n.333+586C>T
NM_001278189.1:c.531+586C>T NP_001265118.1:n.531+586C>T
NM_001278189.2:c.531+586C>T NP_001265118.1:n.531+586C>T
NM_001278190.1:c.531+586C>T NP_001265119.1:n.531+586C>T
NM_001278190.2:c.531+586C>T NP_001265119.1:n.531+586C>T
NM_001278191.1:c.231C>T NP_001265120.1:p.Asn77=
NM_001278191.2:c.231C>T NP_001265120.1:p.Asn77=
NM_001349679.1:c.501C>T NP_001336608.1:p.Asn167=
NM_001349679.2:c.501C>T NP_001336608.1:p.Asn167=
NM_001364679.1:c.612C>T NP_001351608.1:p.Asn204=
NM_001364679.2:c.612C>T NP_001351608.1:p.Asn204=
NM_001364680.1:c.642+586C>T NP_001351609.1:n.642+586C>T
NM_001364680.2:c.642+586C>T NP_001351609.1:n.642+586C>T
NM_001364681.1:c.612C>T NP_001351610.1:p.Asn204=
NM_001364681.2:c.612C>T NP_001351610.1:p.Asn204=
NM_001364682.1:c.642+586C>T NP_001351611.1:n.642+586C>T
NM_001364683.1:c.531+586C>T NP_001351612.1:n.531+586C>T
NM_152263.3:c.612C>T NP_689476.2:p.Asn204=
NM_153649.3:c.531+586C>T NP_705935.1:n.531+586C>T
NM_153649.4:c.531+586C>T NP_705935.1:n.531+586C>T
NR_103461.1:n.661+586C>T
NR_103461.2:n.630+586C>T
ENST00000271850.11:c.642+586C>T ENSP00000271850.7:n.642+586C>T
ENST00000302206.9:c.231C>T ENSP00000307712.5:p.Asn77=
ENST00000312970.12:n.421+586C>T
ENST00000312970.13:n.468C>T
ENST00000323144.11:c.501C>T ENSP00000357518.4:p.Asn167=
ENST00000323144.12:c.501C>T ENSP00000357518.4:p.Asn167=
ENST00000328159.8:c.531+586C>T ENSP00000357520.1:n.531+586C>T
ENST00000328159.9:c.531+586C>T ENSP00000357520.1:n.531+586C>T
ENST00000330188.13:c.501C>T ENSP00000339035.7:p.Asn167=
ENST00000341372.7:c.456+586C>T ENSP00000339378.3:n.456+586C>T
ENST00000341372.8:c.*217C>T ENSP00000339378.4:n.*217C>T
ENST00000341485.10:c.501C>T ENSP00000341653.6:p.Asn167=
ENST00000341485.9:c.483+586C>T ENSP00000341653.5:n.483+586C>T
ENST00000368530.6:c.612C>T ENSP00000357516.2:p.Asn204=
ENST00000368530.7:c.642+586C>T ENSP00000357516.3:n.642+586C>T
ENST00000368531.6:c.531+586C>T ENSP00000357517.2:n.531+586C>T
ENST00000368533.7:c.531+586C>T ENSP00000357521.3:n.531+586C>T
ENST00000368533.8:c.531+586C>T ENSP00000357521.3:n.531+586C>T
ENST00000368545.7:n.649+586C>T
ENST00000469717.5:n.1814C>T
ENST00000509409.5:c.*247+586C>T ENSP00000426521.1:n.*247+586C>T
ENST00000509601.1:c.*41+586C>T ENSP00000422207.1:n.*41+586C>T
ENST00000611659.4:c.531+586C>T ENSP00000480520.1:n.531+586C>T
ENST00000611659.5:c.531+586C>T ENSP00000480520.1:n.531+586C>T
ENST00000651644.1:c.*43C>T ENSP00000498648.1:n.*43C>T
ENST00000651873.1:c.552+586C>T
XM_006711515.1:c.642+586C>T XP_006711578.1:n.642+586C>T
XM_006711517.1:c.642+586C>T XP_006711580.1:n.642+586C>T
XM_006711518.1:c.642+586C>T XP_006711581.1:n.642+586C>T
XM_006711519.1:c.612C>T XP_006711582.1:p.Asn204=
XM_006711520.1:c.642+586C>T XP_006711583.1:n.642+586C>T
XM_006711521.1:c.612C>T XP_006711584.1:p.Asn204=
XM_006711522.2:c.531+586C>T XP_006711585.1:n.531+586C>T
XM_006711523.2:c.501C>T XP_006711586.1:p.Asn167=
XM_011509950.1:c.642+586C>T XP_011508252.1:n.642+586C>T
XM_011509951.1:c.612C>T XP_011508253.1:p.Asn204=
XM_011509952.1:c.531+586C>T XP_011508254.1:n.531+586C>T
XM_011509953.1:c.501C>T XP_011508255.1:p.Asn167=
XM_011509954.1:c.531+586C>T XP_011508256.1:n.531+586C>T