Canonical Allele Identifier: CA430275322
Community Standard Title: NM_001267550.2(TTN):c.46155C>A (p.Leu15385=)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178620366G>T , CM000664.2:g.178620366G>T GRCh38
NC_000002.11:g.179485093G>T , CM000664.1:g.179485093G>T GRCh37
NC_000002.10:g.179193338G>T NCBI36
NG_011618.3:g.215437C>A , LRG_391:g.215437C>A
NG_051363.1:g.102540G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.46155C>A MANE Select NP_001254479.2:p.Leu15385=
ENST00000589042.5:c.46155C>A MANE Select ENSP00000467141.1:p.Leu15385=
NM_001256850.1:c.41232C>A NP_001243779.1:p.Leu13744=
NM_003319.4:c.18960C>A NP_003310.4:p.Leu6320=
NM_133378.4:c.38451C>A NP_596869.4:p.Leu12817=
NM_133432.3:c.19335C>A NP_597676.3:p.Leu6445=
NM_133437.4:c.19536C>A NP_597681.4:p.Leu6512=
ENST00000342175.10:c.19536C>A ENSP00000340554.6:p.Leu6512=
ENST00000342175.11:c.19536C>A ENSP00000340554.6:p.Leu6512=
ENST00000342992.10:c.38451C>A ENSP00000343764.6:p.Leu12817=
ENST00000342992.11:c.38451C>A ENSP00000343764.6:p.Leu12817=
ENST00000359218.10:c.19335C>A ENSP00000352154.5:p.Leu6445=
ENST00000359218.9:c.19335C>A ENSP00000352154.5:p.Leu6445=
ENST00000460472.6:c.18960C>A ENSP00000434586.1:p.Leu6320=
ENST00000591111.5:c.41232C>A ENSP00000465570.1:p.Leu13744=
ENST00000615779.4:c.41232C>A ENSP00000483597.1:p.Leu13744=
XM_011511729.1:c.45252C>A XP_011510031.1:p.Leu15084=
XM_011511730.1:c.19146C>A XP_011510032.1:p.Leu6382=
XM_011511731.1:c.19005C>A XP_011510033.1:p.Leu6335=
XM_017004819.1:c.45048C>A XP_016860308.1:p.Leu15016=
XM_017004820.1:c.40446C>A XP_016860309.1:p.Leu13482=
XM_017004821.1:c.40443C>A XP_016860310.1:p.Leu13481=
XM_017004822.1:c.37485C>A XP_016860311.1:p.Leu12495=
XM_017004823.1:c.19101C>A XP_016860312.1:p.Leu6367=
XM_024453094.1:c.40596C>A XP_024308862.1:p.Leu13532=
XM_024453095.1:c.40593C>A XP_024308863.1:p.Leu13531=
XM_024453096.1:c.40026C>A XP_024308864.1:p.Leu13342=
XM_024453097.1:c.37368C>A XP_024308865.1:p.Leu12456=
XM_024453098.1:c.37287C>A XP_024308866.1:p.Leu12429=
XM_024453099.1:c.19050C>A XP_024308867.1:p.Leu6350=
XM_024453100.1:c.8904C>A XP_024308868.1:p.Leu2968=