Canonical Allele Identifier: CA349426601
Community Standard Title: NM_001267550.2(TTN):c.100172-1G>C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178536576C>G , CM000664.2:g.178536576C>G GRCh38
NC_000002.11:g.179401303C>G , CM000664.1:g.179401303C>G GRCh37
NC_000002.10:g.179109549C>G NCBI36
NG_011618.3:g.299227G>C , LRG_391:g.299227G>C
NG_051363.1:g.18750C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.100172-1G>C (TTN) MANE Select NP_001254479.2:n.100172-1G>C
ENST00000589042.5:c.100172-1G>C (TTN) MANE Select ENSP00000467141.1:n.100172-1G>C
NM_001256850.1:c.95249-1G>C (TTN) NP_001243779.1:n.95249-1G>C
NM_003319.4:c.72977-1G>C (TTN) NP_003310.4:n.72977-1G>C
NM_133378.4:c.92468-1G>C (TTN) NP_596869.4:n.92468-1G>C
NM_133432.3:c.73352-1G>C (TTN) NP_597676.3:n.73352-1G>C
NM_133437.4:c.73553-1G>C (TTN) NP_597681.4:n.73553-1G>C
NR_038271.1:n.446+12940C>G (TTN-AS1)
NR_038272.1:n.316+748C>G (TTN-AS1)
ENST00000342175.10:c.73553-1G>C (TTN) ENSP00000340554.6:n.73553-1G>C
ENST00000342175.11:c.73553-1G>C (TTN) ENSP00000340554.6:n.73553-1G>C
ENST00000342992.10:c.92468-1G>C (TTN) ENSP00000343764.6:n.92468-1G>C
ENST00000342992.11:c.92468-1G>C (TTN) ENSP00000343764.6:n.92468-1G>C
ENST00000359218.10:c.73352-1G>C (TTN) ENSP00000352154.5:n.73352-1G>C
ENST00000359218.9:c.73352-1G>C (TTN) ENSP00000352154.5:n.73352-1G>C
ENST00000460472.6:c.72977-1G>C (TTN) ENSP00000434586.1:n.72977-1G>C
ENST00000591111.5:c.95249-1G>C (TTN) ENSP00000465570.1:n.95249-1G>C
ENST00000615779.4:c.95249-1G>C (TTN) ENSP00000483597.1:n.95249-1G>C
XM_011511729.1:c.99269-1G>C (TTN) XP_011510031.1:n.99269-1G>C
XM_011511730.1:c.73163-1G>C (TTN) XP_011510032.1:n.73163-1G>C
XM_011511731.1:c.73022-1G>C (TTN) XP_011510033.1:n.73022-1G>C
XM_017004819.1:c.99065-1G>C (TTN) XP_016860308.1:n.99065-1G>C
XM_017004820.1:c.94463-1G>C (TTN) XP_016860309.1:n.94463-1G>C
XM_017004821.1:c.94460-1G>C (TTN) XP_016860310.1:n.94460-1G>C
XM_017004822.1:c.91502-1G>C (TTN) XP_016860311.1:n.91502-1G>C
XM_017004823.1:c.73118-1G>C (TTN) XP_016860312.1:n.73118-1G>C
XM_024453094.1:c.94613-1G>C (TTN) XP_024308862.1:n.94613-1G>C
XM_024453095.1:c.94610-1G>C (TTN) XP_024308863.1:n.94610-1G>C
XM_024453096.1:c.94043-1G>C (TTN) XP_024308864.1:n.94043-1G>C
XM_024453097.1:c.91385-1G>C (TTN) XP_024308865.1:n.91385-1G>C
XM_024453098.1:c.91304-1G>C (TTN) XP_024308866.1:n.91304-1G>C
XM_024453099.1:c.73067-1G>C (TTN) XP_024308867.1:n.73067-1G>C
XM_024453100.1:c.62921-1G>C (TTN) XP_024308868.1:n.62921-1G>C