Canonical Allele Identifier: CA9667507
Gene: TNNT1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55141284T>G , CM000681.2:g.55141284T>G GRCh38
NC_000019.9:g.55652652T>G , CM000681.1:g.55652652T>G GRCh37
NC_000019.8:g.60344464T>G NCBI36
NG_011829.2:g.12955A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000588981.6:c.211A>C MANE Select ENSP00000467176.1:p.Met71Leu
ENST00000291901.12:c.211A>C ENSP00000291901.8:p.Met71Leu
ENST00000356783.9:c.178A>C ENSP00000349233.4:p.Met60Leu
ENST00000536926.5:c.1A>C ENSP00000439640.2:p.Met1Leu
ENST00000585321.6:c.1A>C ENSP00000467980.2:p.Met1Leu
ENST00000587089.6:c.263A>C
ENST00000587465.6:c.1A>C ENSP00000464843.2:p.Met1Leu
ENST00000587758.5:c.178A>C ENSP00000467789.1:p.Met60Leu
ENST00000588147.5:c.199A>C ENSP00000467299.1:p.Met67Leu
ENST00000588426.5:c.49-372A>C ENSP00000465991.1:n.49-372A>C
ENST00000588981.5:c.211A>C ENSP00000467176.1:p.Met71Leu
ENST00000589226.5:c.178A>C ENSP00000470854.1:p.Met60Leu
ENST00000592920.5:n.289A>C
ENST00000593046.5:c.211A>C ENSP00000470777.1:p.Met71Leu
ENST00000593194.5:c.54A>C
NM_001126132.2:c.211A>C NP_001119604.1:p.Met71Leu
NM_001126133.2:c.178A>C NP_001119605.1:p.Met60Leu
NM_001291774.1:c.178A>C NP_001278703.1:p.Met60Leu
NM_003283.5:c.211A>C NP_003274.3:p.Met71Leu
XM_006723343.2:c.247A>C XP_006723406.1:p.Met83Leu
XM_011527243.1:c.235A>C XP_011525545.1:p.Met79Leu
XM_011527244.1:c.214A>C XP_011525546.1:p.Met72Leu
XM_011527245.1:c.211A>C XP_011525547.1:p.Met71Leu
XM_011527246.1:c.199A>C XP_011525548.1:p.Met67Leu
XM_011527246.3:c.199A>C XP_011525548.1:p.Met67Leu
XM_017027186.1:c.211A>C XP_016882675.1:p.Met71Leu
XM_017027187.1:c.199A>C XP_016882676.1:p.Met67Leu
NM_003283.6:c.211A>C MANE Select NP_003274.3:p.Met71Leu
NM_001126132.3:c.211A>C NP_001119604.1:p.Met71Leu
NM_001126133.3:c.178A>C NP_001119605.1:p.Met60Leu
NM_001291774.2:c.178A>C NP_001278703.1:p.Met60Leu