Canonical Allele Identifier: CA913189562
Community Standard Title: NM_001267550.2(TTN):c.40634-5T>C
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178640635A>G , CM000664.2:g.178640635A>G GRCh38
NC_000002.11:g.179505362A>G , CM000664.1:g.179505362A>G GRCh37
NC_000002.10:g.179213607A>G NCBI36
NG_011618.3:g.195168T>C , LRG_391:g.195168T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.40634-5T>C MANE Select NP_001254479.2:n.40634-5T>C
ENST00000589042.5:c.40634-5T>C MANE Select ENSP00000467141.1:n.40634-5T>C
NM_001256850.1:c.35711-5T>C NP_001243779.1:n.35711-5T>C
NM_003319.4:c.13439-5T>C NP_003310.4:n.13439-5T>C
NM_133378.4:c.32930-5T>C NP_596869.4:n.32930-5T>C
NM_133432.3:c.13814-5T>C NP_597676.3:n.13814-5T>C
NM_133437.4:c.14015-5T>C NP_597681.4:n.14015-5T>C
ENST00000342175.10:c.14015-5T>C ENSP00000340554.6:n.14015-5T>C
ENST00000342175.11:c.14015-5T>C ENSP00000340554.6:n.14015-5T>C
ENST00000342992.10:c.32930-5T>C ENSP00000343764.6:n.32930-5T>C
ENST00000342992.11:c.32930-5T>C ENSP00000343764.6:n.32930-5T>C
ENST00000359218.10:c.13814-5T>C ENSP00000352154.5:n.13814-5T>C
ENST00000359218.9:c.13814-5T>C ENSP00000352154.5:n.13814-5T>C
ENST00000414766.5:c.2597-5T>C ENSP00000401501.1:n.2597-5T>C
ENST00000426232.5:c.597-5T>C
ENST00000446966.1:c.995-5T>C ENSP00000408004.1:n.995-5T>C
ENST00000460472.6:c.13439-5T>C ENSP00000434586.1:n.13439-5T>C
ENST00000591111.5:c.35711-5T>C ENSP00000465570.1:n.35711-5T>C
ENST00000615779.4:c.35711-5T>C ENSP00000483597.1:n.35711-5T>C
XM_011511729.1:c.39731-5T>C XP_011510031.1:n.39731-5T>C
XM_011511730.1:c.13625-5T>C XP_011510032.1:n.13625-5T>C
XM_011511731.1:c.13484-5T>C XP_011510033.1:n.13484-5T>C
XM_017004819.1:c.39527-5T>C XP_016860308.1:n.39527-5T>C
XM_017004820.1:c.34925-5T>C XP_016860309.1:n.34925-5T>C
XM_017004821.1:c.34922-5T>C XP_016860310.1:n.34922-5T>C
XM_017004822.1:c.32015-5T>C XP_016860311.1:n.32015-5T>C
XM_017004823.1:c.13580-5T>C XP_016860312.1:n.13580-5T>C
XM_024453094.1:c.35075-5T>C XP_024308862.1:n.35075-5T>C
XM_024453095.1:c.35072-5T>C XP_024308863.1:n.35072-5T>C
XM_024453096.1:c.34505-5T>C XP_024308864.1:n.34505-5T>C
XM_024453097.1:c.31847-5T>C XP_024308865.1:n.31847-5T>C
XM_024453098.1:c.31766-5T>C XP_024308866.1:n.31766-5T>C
XM_024453099.1:c.13580-5T>C XP_024308867.1:n.13580-5T>C
XM_024453100.1:c.3383-5T>C XP_024308868.1:n.3383-5T>C