Canonical Allele Identifier: CA215410
Gene: TNNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12440
dbSNP Id: rs80358249

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55137176C>A , CM000681.2:g.55137176C>A GRCh38
NC_000019.9:g.55648544C>A , CM000681.1:g.55648544C>A GRCh37
NC_000019.8:g.60340356C>A NCBI36
NG_011829.2:g.17063G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000588981.6:c.538G>T MANE Select ENSP00000467176.1:p.Glu180Ter
ENST00000291901.12:c.538G>T ENSP00000291901.8:p.Glu180Ter
ENST00000356783.9:c.505G>T ENSP00000349233.4:p.Glu169Ter
ENST00000536926.5:c.328G>T ENSP00000439640.2:p.Glu110Ter
ENST00000585321.6:c.328G>T ENSP00000467980.2:p.Glu110Ter
ENST00000586649.2:c.2G>T
ENST00000587089.6:c.590G>T
ENST00000587465.6:c.328G>T ENSP00000464843.2:p.Glu110Ter
ENST00000587758.5:c.505G>T ENSP00000467789.1:p.Glu169Ter
ENST00000588426.5:c.229G>T ENSP00000465991.1:p.Glu77Ter
ENST00000588981.5:c.538G>T ENSP00000467176.1:p.Glu180Ter
ENST00000589745.5:c.191G>T
ENST00000593046.5:c.538G>T ENSP00000470777.1:p.Glu180Ter
ENST00000593194.5:c.381G>T
NM_001126132.2:c.538G>T NP_001119604.1:p.Glu180Ter
NM_001126133.2:c.505G>T NP_001119605.1:p.Glu169Ter
NM_001291774.1:c.505G>T NP_001278703.1:p.Glu169Ter
NM_003283.5:c.538G>T NP_003274.3:p.Glu180Ter
XM_006723343.2:c.574G>T XP_006723406.1:p.Glu192Ter
XM_011527243.1:c.562G>T XP_011525545.1:p.Glu188Ter
XM_011527244.1:c.541G>T XP_011525546.1:p.Glu181Ter
XM_011527245.1:c.538G>T XP_011525547.1:p.Glu180Ter
XM_011527246.1:c.526G>T XP_011525548.1:p.Glu176Ter
XM_011527246.3:c.526G>T XP_011525548.1:p.Glu176Ter
XM_017027186.1:c.538G>T XP_016882675.1:p.Glu180Ter
XM_017027187.1:c.526G>T XP_016882676.1:p.Glu176Ter
NM_003283.6:c.538G>T MANE Select NP_003274.3:p.Glu180Ter
NM_001126132.3:c.538G>T NP_001119604.1:p.Glu180Ter
NM_001126133.3:c.505G>T NP_001119605.1:p.Glu169Ter
NM_001291774.2:c.505G>T NP_001278703.1:p.Glu169Ter