Canonical Allele Identifier: CA310132325
Community Standard Title: NM_003283.6(TNNT1):c.428G>A (p.Arg143Gln)
Gene: TNNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55138034C>T , CM000681.2:g.55138034C>T GRCh38
NC_000019.9:g.55649402C>T , CM000681.1:g.55649402C>T GRCh37
NC_000019.8:g.60341214C>T NCBI36
NG_011829.2:g.16205G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003283.6:c.428G>A MANE Select NP_003274.3:p.Arg143Gln
ENST00000588981.6:c.428G>A MANE Select ENSP00000467176.1:p.Arg143Gln
NM_001126132.2:c.428G>A NP_001119604.1:p.Arg143Gln
NM_001126132.3:c.428G>A NP_001119604.1:p.Arg143Gln
NM_001126133.2:c.395G>A NP_001119605.1:p.Arg132Gln
NM_001126133.3:c.395G>A NP_001119605.1:p.Arg132Gln
NM_001291774.1:c.395G>A NP_001278703.1:p.Arg132Gln
NM_001291774.2:c.395G>A NP_001278703.1:p.Arg132Gln
NM_003283.5:c.428G>A NP_003274.3:p.Arg143Gln
ENST00000291901.12:c.428G>A ENSP00000291901.8:p.Arg143Gln
ENST00000356783.9:c.395G>A ENSP00000349233.4:p.Arg132Gln
ENST00000536926.5:c.218G>A ENSP00000439640.2:p.Arg73Gln
ENST00000585321.6:c.218G>A ENSP00000467980.2:p.Arg73Gln
ENST00000587089.6:c.480G>A
ENST00000587465.6:c.218G>A ENSP00000464843.2:p.Arg73Gln
ENST00000587758.5:c.395G>A ENSP00000467789.1:p.Arg132Gln
ENST00000588147.5:c.416G>A ENSP00000467299.1:p.Arg139Gln
ENST00000588426.5:c.119G>A ENSP00000465991.1:p.Arg40Gln
ENST00000588981.5:c.428G>A ENSP00000467176.1:p.Arg143Gln
ENST00000589226.5:c.395G>A ENSP00000470854.1:p.Arg132Gln
ENST00000589745.5:c.81G>A
ENST00000592920.5:n.554G>A
ENST00000593046.5:c.428G>A ENSP00000470777.1:p.Arg143Gln
ENST00000593194.5:c.271G>A
XM_006723343.2:c.464G>A XP_006723406.1:p.Arg155Gln
XM_011527243.1:c.452G>A XP_011525545.1:p.Arg151Gln
XM_011527244.1:c.431G>A XP_011525546.1:p.Arg144Gln
XM_011527245.1:c.428G>A XP_011525547.1:p.Arg143Gln
XM_011527246.1:c.416G>A XP_011525548.1:p.Arg139Gln
XM_011527246.3:c.416G>A XP_011525548.1:p.Arg139Gln
XM_017027186.1:c.428G>A XP_016882675.1:p.Arg143Gln
XM_017027187.1:c.416G>A XP_016882676.1:p.Arg139Gln