Canonical Allele Identifier: CA349425400

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178536169G>C , CM000664.2:g.178536169G>C GRCh38
NC_000002.11:g.179400896G>C , CM000664.1:g.179400896G>C GRCh37
NC_000002.10:g.179109142G>C NCBI36
NG_011618.3:g.299634C>G , LRG_391:g.299634C>G
NG_051363.1:g.18343G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92874C>G (TTN) ENSP00000343764.6:p.Ile30958Met
ENST00000342175.11:c.73959C>G (TTN) ENSP00000340554.6:p.Ile24653Met
ENST00000359218.10:c.73758C>G (TTN) ENSP00000352154.5:p.Ile24586Met
ENST00000342175.10:c.73959C>G (TTN) ENSP00000340554.6:p.Ile24653Met
ENST00000342992.10:c.92874C>G (TTN) ENSP00000343764.6:p.Ile30958Met
ENST00000359218.9:c.73758C>G (TTN) ENSP00000352154.5:p.Ile24586Met
ENST00000460472.6:c.73383C>G (TTN) ENSP00000434586.1:p.Ile24461Met
ENST00000589042.5:c.100578C>G (TTN) MANE Select ENSP00000467141.1:p.Ile33526Met
ENST00000591111.5:c.95655C>G (TTN) ENSP00000465570.1:p.Ile31885Met
ENST00000615779.4:c.95655C>G (TTN) ENSP00000483597.1:p.Ile31885Met
NM_001256850.1:c.95655C>G (TTN) NP_001243779.1:p.Ile31885Met
NM_001267550.2:c.100578C>G (TTN) MANE Select NP_001254479.2:p.Ile33526Met
NM_003319.4:c.73383C>G (TTN) NP_003310.4:p.Ile24461Met
NM_133378.4:c.92874C>G (TTN) NP_596869.4:p.Ile30958Met
NM_133432.3:c.73758C>G (TTN) NP_597676.3:p.Ile24586Met
NM_133437.4:c.73959C>G (TTN) NP_597681.4:p.Ile24653Met
NR_038271.1:n.446+12533G>C (TTN-AS1)
NR_038272.1:n.316+341G>C (TTN-AS1)
XM_011511729.1:c.99675C>G (TTN) XP_011510031.1:p.Ile33225Met
XM_011511730.1:c.73569C>G (TTN) XP_011510032.1:p.Ile24523Met
XM_011511731.1:c.73428C>G (TTN) XP_011510033.1:p.Ile24476Met
XM_017004819.1:c.99471C>G (TTN) XP_016860308.1:p.Ile33157Met
XM_017004820.1:c.94869C>G (TTN) XP_016860309.1:p.Ile31623Met
XM_017004821.1:c.94866C>G (TTN) XP_016860310.1:p.Ile31622Met
XM_017004822.1:c.91908C>G (TTN) XP_016860311.1:p.Ile30636Met
XM_017004823.1:c.73524C>G (TTN) XP_016860312.1:p.Ile24508Met
XM_024453094.1:c.95019C>G (TTN) XP_024308862.1:p.Ile31673Met
XM_024453095.1:c.95016C>G (TTN) XP_024308863.1:p.Ile31672Met
XM_024453096.1:c.94449C>G (TTN) XP_024308864.1:p.Ile31483Met
XM_024453097.1:c.91791C>G (TTN) XP_024308865.1:p.Ile30597Met
XM_024453098.1:c.91710C>G (TTN) XP_024308866.1:p.Ile30570Met
XM_024453099.1:c.73473C>G (TTN) XP_024308867.1:p.Ile24491Met
XM_024453100.1:c.63327C>G (TTN) XP_024308868.1:p.Ile21109Met