Canonical Allele Identifier: CA349417034

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533953T>A , CM000664.2:g.178533953T>A GRCh38
NC_000002.11:g.179398680T>A , CM000664.1:g.179398680T>A GRCh37
NC_000002.10:g.179106926T>A NCBI36
NG_011618.3:g.301850A>T , LRG_391:g.301850A>T
NG_051363.1:g.16127T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94958A>T (TTN) ENSP00000343764.6:p.Tyr31653Phe
ENST00000342175.11:c.76043A>T (TTN) ENSP00000340554.6:p.Tyr25348Phe
ENST00000359218.10:c.75842A>T (TTN) ENSP00000352154.5:p.Tyr25281Phe
ENST00000342175.10:c.76043A>T (TTN) ENSP00000340554.6:p.Tyr25348Phe
ENST00000342992.10:c.94958A>T (TTN) ENSP00000343764.6:p.Tyr31653Phe
ENST00000359218.9:c.75842A>T (TTN) ENSP00000352154.5:p.Tyr25281Phe
ENST00000460472.6:c.75467A>T (TTN) ENSP00000434586.1:p.Tyr25156Phe
ENST00000589042.5:c.102662A>T (TTN) MANE Select ENSP00000467141.1:p.Tyr34221Phe
ENST00000591111.5:c.97739A>T (TTN) ENSP00000465570.1:p.Tyr32580Phe
ENST00000615779.4:c.97739A>T (TTN) ENSP00000483597.1:p.Tyr32580Phe
NM_001256850.1:c.97739A>T (TTN) NP_001243779.1:p.Tyr32580Phe
NM_001267550.2:c.102662A>T (TTN) MANE Select NP_001254479.2:p.Tyr34221Phe
NM_003319.4:c.75467A>T (TTN) NP_003310.4:p.Tyr25156Phe
NM_133378.4:c.94958A>T (TTN) NP_596869.4:p.Tyr31653Phe
NM_133432.3:c.75842A>T (TTN) NP_597676.3:p.Tyr25281Phe
NM_133437.4:c.76043A>T (TTN) NP_597681.4:p.Tyr25348Phe
NR_038271.1:n.446+10317T>A (TTN-AS1)
NR_038272.1:n.220-1779T>A (TTN-AS1)
XM_011511729.1:c.101759A>T (TTN) XP_011510031.1:p.Tyr33920Phe
XM_011511730.1:c.75653A>T (TTN) XP_011510032.1:p.Tyr25218Phe
XM_011511731.1:c.75512A>T (TTN) XP_011510033.1:p.Tyr25171Phe
XM_017004819.1:c.101555A>T (TTN) XP_016860308.1:p.Tyr33852Phe
XM_017004820.1:c.96953A>T (TTN) XP_016860309.1:p.Tyr32318Phe
XM_017004821.1:c.96950A>T (TTN) XP_016860310.1:p.Tyr32317Phe
XM_017004822.1:c.93992A>T (TTN) XP_016860311.1:p.Tyr31331Phe
XM_017004823.1:c.75608A>T (TTN) XP_016860312.1:p.Tyr25203Phe
XM_024453094.1:c.97103A>T (TTN) XP_024308862.1:p.Tyr32368Phe
XM_024453095.1:c.97100A>T (TTN) XP_024308863.1:p.Tyr32367Phe
XM_024453096.1:c.96533A>T (TTN) XP_024308864.1:p.Tyr32178Phe
XM_024453097.1:c.93875A>T (TTN) XP_024308865.1:p.Tyr31292Phe
XM_024453098.1:c.93794A>T (TTN) XP_024308866.1:p.Tyr31265Phe
XM_024453099.1:c.75557A>T (TTN) XP_024308867.1:p.Tyr25186Phe
XM_024453100.1:c.65411A>T (TTN) XP_024308868.1:p.Tyr21804Phe