Canonical Allele Identifier: CA349427937

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537638A>G , CM000664.2:g.178537638A>G GRCh38
NC_000002.11:g.179402365A>G , CM000664.1:g.179402365A>G GRCh37
NC_000002.10:g.179110611A>G NCBI36
NG_011618.3:g.298165T>C , LRG_391:g.298165T>C
NG_051363.1:g.19812A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.91865T>C (TTN) ENSP00000343764.6:p.Leu30622Pro
ENST00000342175.11:c.72950T>C (TTN) ENSP00000340554.6:p.Leu24317Pro
ENST00000359218.10:c.72749T>C (TTN) ENSP00000352154.5:p.Leu24250Pro
ENST00000342175.10:c.72950T>C (TTN) ENSP00000340554.6:p.Leu24317Pro
ENST00000342992.10:c.91865T>C (TTN) ENSP00000343764.6:p.Leu30622Pro
ENST00000359218.9:c.72749T>C (TTN) ENSP00000352154.5:p.Leu24250Pro
ENST00000460472.6:c.72374T>C (TTN) ENSP00000434586.1:p.Leu24125Pro
ENST00000589042.5:c.99569T>C (TTN) MANE Select ENSP00000467141.1:p.Leu33190Pro
ENST00000591111.5:c.94646T>C (TTN) ENSP00000465570.1:p.Leu31549Pro
ENST00000615779.4:c.94646T>C (TTN) ENSP00000483597.1:p.Leu31549Pro
NM_001256850.1:c.94646T>C (TTN) NP_001243779.1:p.Leu31549Pro
NM_001267550.2:c.99569T>C (TTN) MANE Select NP_001254479.2:p.Leu33190Pro
NM_003319.4:c.72374T>C (TTN) NP_003310.4:p.Leu24125Pro
NM_133378.4:c.91865T>C (TTN) NP_596869.4:p.Leu30622Pro
NM_133432.3:c.72749T>C (TTN) NP_597676.3:p.Leu24250Pro
NM_133437.4:c.72950T>C (TTN) NP_597681.4:p.Leu24317Pro
NR_038271.1:n.446+14002A>G (TTN-AS1)
NR_038272.1:n.594A>G (TTN-AS1)
XM_011511729.1:c.98666T>C (TTN) XP_011510031.1:p.Leu32889Pro
XM_011511730.1:c.72560T>C (TTN) XP_011510032.1:p.Leu24187Pro
XM_011511731.1:c.72419T>C (TTN) XP_011510033.1:p.Leu24140Pro
XM_017004819.1:c.98462T>C (TTN) XP_016860308.1:p.Leu32821Pro
XM_017004820.1:c.93860T>C (TTN) XP_016860309.1:p.Leu31287Pro
XM_017004821.1:c.93857T>C (TTN) XP_016860310.1:p.Leu31286Pro
XM_017004822.1:c.90899T>C (TTN) XP_016860311.1:p.Leu30300Pro
XM_017004823.1:c.72515T>C (TTN) XP_016860312.1:p.Leu24172Pro
XM_024453094.1:c.94010T>C (TTN) XP_024308862.1:p.Leu31337Pro
XM_024453095.1:c.94007T>C (TTN) XP_024308863.1:p.Leu31336Pro
XM_024453096.1:c.93440T>C (TTN) XP_024308864.1:p.Leu31147Pro
XM_024453097.1:c.90782T>C (TTN) XP_024308865.1:p.Leu30261Pro
XM_024453098.1:c.90701T>C (TTN) XP_024308866.1:p.Leu30234Pro
XM_024453099.1:c.72464T>C (TTN) XP_024308867.1:p.Leu24155Pro
XM_024453100.1:c.62318T>C (TTN) XP_024308868.1:p.Leu20773Pro