Canonical Allele Identifier: CA349400180

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527597C>G , CM000664.2:g.178527597C>G GRCh38
NC_000002.11:g.179392324C>G , CM000664.1:g.179392324C>G GRCh37
NC_000002.10:g.179100570C>G NCBI36
NG_011618.3:g.308206G>C , LRG_391:g.308206G>C
NG_051363.1:g.9771C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.99825G>C (TTN) ENSP00000343764.6:p.Met33275Ile
ENST00000342175.11:c.80910G>C (TTN) ENSP00000340554.6:p.Met26970Ile
ENST00000359218.10:c.80709G>C (TTN) ENSP00000352154.5:p.Met26903Ile
ENST00000342175.10:c.80910G>C (TTN) ENSP00000340554.6:p.Met26970Ile
ENST00000342992.10:c.99825G>C (TTN) ENSP00000343764.6:p.Met33275Ile
ENST00000359218.9:c.80709G>C (TTN) ENSP00000352154.5:p.Met26903Ile
ENST00000460472.6:c.80334G>C (TTN) ENSP00000434586.1:p.Met26778Ile
ENST00000589042.5:c.107529G>C (TTN) MANE Select ENSP00000467141.1:p.Met35843Ile
ENST00000591111.5:c.102606G>C (TTN) ENSP00000465570.1:p.Met34202Ile
ENST00000615779.4:c.102606G>C (TTN) ENSP00000483597.1:p.Met34202Ile
NM_001256850.1:c.102606G>C (TTN) NP_001243779.1:p.Met34202Ile
NM_001267550.2:c.107529G>C (TTN) MANE Select NP_001254479.2:p.Met35843Ile
NM_003319.4:c.80334G>C (TTN) NP_003310.4:p.Met26778Ile
NM_133378.4:c.99825G>C (TTN) NP_596869.4:p.Met33275Ile
NM_133432.3:c.80709G>C (TTN) NP_597676.3:p.Met26903Ile
NM_133437.4:c.80910G>C (TTN) NP_597681.4:p.Met26970Ile
NR_038271.1:n.446+3961C>G (TTN-AS1)
NR_038272.1:n.219+3961C>G (TTN-AS1)
XM_011511729.1:c.106626G>C (TTN) XP_011510031.1:p.Met35542Ile
XM_011511730.1:c.80520G>C (TTN) XP_011510032.1:p.Met26840Ile
XM_011511731.1:c.80379G>C (TTN) XP_011510033.1:p.Met26793Ile
XM_017004819.1:c.106422G>C (TTN) XP_016860308.1:p.Met35474Ile
XM_017004820.1:c.101820G>C (TTN) XP_016860309.1:p.Met33940Ile
XM_017004821.1:c.101817G>C (TTN) XP_016860310.1:p.Met33939Ile
XM_017004822.1:c.98859G>C (TTN) XP_016860311.1:p.Met32953Ile
XM_017004823.1:c.80475G>C (TTN) XP_016860312.1:p.Met26825Ile
XM_024453094.1:c.101970G>C (TTN) XP_024308862.1:p.Met33990Ile
XM_024453095.1:c.101967G>C (TTN) XP_024308863.1:p.Met33989Ile
XM_024453096.1:c.101400G>C (TTN) XP_024308864.1:p.Met33800Ile
XM_024453097.1:c.98742G>C (TTN) XP_024308865.1:p.Met32914Ile
XM_024453098.1:c.98661G>C (TTN) XP_024308866.1:p.Met32887Ile
XM_024453099.1:c.80424G>C (TTN) XP_024308867.1:p.Met26808Ile
XM_024453100.1:c.70278G>C (TTN) XP_024308868.1:p.Met23426Ile