Canonical Allele Identifier: CA9667362
Community Standard Title: NM_003283.6(TNNT1):c.609C>G (p.Leu203=)
Gene: TNNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55137105G>C , CM000681.2:g.55137105G>C GRCh38
NC_000019.9:g.55648473G>C , CM000681.1:g.55648473G>C GRCh37
NC_000019.8:g.60340285G>C NCBI36
NG_011829.2:g.17134C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003283.6:c.609C>G MANE Select NP_003274.3:p.Leu203=
ENST00000588981.6:c.609C>G MANE Select ENSP00000467176.1:p.Leu203=
NM_001126132.2:c.609C>G NP_001119604.1:p.Leu203=
NM_001126132.3:c.609C>G NP_001119604.1:p.Leu203=
NM_001126133.2:c.576C>G NP_001119605.1:p.Leu192=
NM_001126133.3:c.576C>G NP_001119605.1:p.Leu192=
NM_001291774.1:c.576C>G NP_001278703.1:p.Leu192=
NM_001291774.2:c.576C>G NP_001278703.1:p.Leu192=
NM_003283.5:c.609C>G NP_003274.3:p.Leu203=
ENST00000291901.12:c.609C>G ENSP00000291901.8:p.Leu203=
ENST00000356783.9:c.576C>G ENSP00000349233.4:p.Leu192=
ENST00000536926.5:c.399C>G ENSP00000439640.2:p.Leu133=
ENST00000585321.6:c.399C>G ENSP00000467980.2:p.Leu133=
ENST00000586649.2:c.73C>G
ENST00000587089.6:c.661C>G
ENST00000587465.6:c.399C>G ENSP00000464843.2:p.Leu133=
ENST00000587758.5:c.576C>G ENSP00000467789.1:p.Leu192=
ENST00000588426.5:c.300C>G ENSP00000465991.1:p.Leu100=
ENST00000588981.5:c.609C>G ENSP00000467176.1:p.Leu203=
ENST00000589745.5:c.262C>G
ENST00000593046.5:c.609C>G ENSP00000470777.1:p.Leu203=
ENST00000593194.5:c.452C>G
XM_006723343.2:c.645C>G XP_006723406.1:p.Leu215=
XM_011527243.1:c.633C>G XP_011525545.1:p.Leu211=
XM_011527244.1:c.612C>G XP_011525546.1:p.Leu204=
XM_011527245.1:c.609C>G XP_011525547.1:p.Leu203=
XM_011527246.1:c.597C>G XP_011525548.1:p.Leu199=
XM_011527246.3:c.597C>G XP_011525548.1:p.Leu199=
XM_017027186.1:c.609C>G XP_016882675.1:p.Leu203=
XM_017027187.1:c.597C>G XP_016882676.1:p.Leu199=