Canonical Allele Identifier: CA430255393
Community Standard Title: NM_001267550.2(TTN):c.75342T>C (p.Asp25114=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570790A>G , CM000664.2:g.178570790A>G GRCh38
NC_000002.11:g.179435517A>G , CM000664.1:g.179435517A>G GRCh37
NC_000002.10:g.179143763A>G NCBI36
NG_011618.3:g.265013T>C , LRG_391:g.265013T>C
NG_051363.1:g.52964A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.75342T>C (TTN) MANE Select NP_001254479.2:p.Asp25114=
ENST00000589042.5:c.75342T>C (TTN) MANE Select ENSP00000467141.1:p.Asp25114=
NM_001256850.1:c.70419T>C (TTN) NP_001243779.1:p.Asp23473=
NM_003319.4:c.48147T>C (TTN) NP_003310.4:p.Asp16049=
NM_133378.4:c.67638T>C (TTN) NP_596869.4:p.Asp22546=
NM_133432.3:c.48522T>C (TTN) NP_597676.3:p.Asp16174=
NM_133437.4:c.48723T>C (TTN) NP_597681.4:p.Asp16241=
NR_038271.1:n.447-510A>G (TTN-AS1)
NR_038272.1:n.2044-11782A>G (TTN-AS1)
ENST00000342175.10:c.48723T>C (TTN) ENSP00000340554.6:p.Asp16241=
ENST00000342175.11:c.48723T>C (TTN) ENSP00000340554.6:p.Asp16241=
ENST00000342992.10:c.67638T>C (TTN) ENSP00000343764.6:p.Asp22546=
ENST00000342992.11:c.67638T>C (TTN) ENSP00000343764.6:p.Asp22546=
ENST00000359218.10:c.48522T>C (TTN) ENSP00000352154.5:p.Asp16174=
ENST00000359218.9:c.48522T>C (TTN) ENSP00000352154.5:p.Asp16174=
ENST00000460472.6:c.48147T>C (TTN) ENSP00000434586.1:p.Asp16049=
ENST00000591111.5:c.70419T>C (TTN) ENSP00000465570.1:p.Asp23473=
ENST00000615779.4:c.70419T>C (TTN) ENSP00000483597.1:p.Asp23473=
XM_011511729.1:c.74439T>C (TTN) XP_011510031.1:p.Asp24813=
XM_011511730.1:c.48333T>C (TTN) XP_011510032.1:p.Asp16111=
XM_011511731.1:c.48192T>C (TTN) XP_011510033.1:p.Asp16064=
XM_017004819.1:c.74235T>C (TTN) XP_016860308.1:p.Asp24745=
XM_017004820.1:c.69633T>C (TTN) XP_016860309.1:p.Asp23211=
XM_017004821.1:c.69630T>C (TTN) XP_016860310.1:p.Asp23210=
XM_017004822.1:c.66672T>C (TTN) XP_016860311.1:p.Asp22224=
XM_017004823.1:c.48288T>C (TTN) XP_016860312.1:p.Asp16096=
XM_024453094.1:c.69783T>C (TTN) XP_024308862.1:p.Asp23261=
XM_024453095.1:c.69780T>C (TTN) XP_024308863.1:p.Asp23260=
XM_024453096.1:c.69213T>C (TTN) XP_024308864.1:p.Asp23071=
XM_024453097.1:c.66555T>C (TTN) XP_024308865.1:p.Asp22185=
XM_024453098.1:c.66474T>C (TTN) XP_024308866.1:p.Asp22158=
XM_024453099.1:c.48237T>C (TTN) XP_024308867.1:p.Asp16079=
XM_024453100.1:c.38091T>C (TTN) XP_024308868.1:p.Asp12697=