Canonical Allele Identifier: CA349413364
Community Standard Title: NM_001267550.2(TTN):c.103845C>G (p.Tyr34615Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532770G>C , CM000664.2:g.178532770G>C GRCh38
NC_000002.11:g.179397497G>C , CM000664.1:g.179397497G>C GRCh37
NC_000002.10:g.179105743G>C NCBI36
NG_011618.3:g.303033C>G , LRG_391:g.303033C>G
NG_051363.1:g.14944G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.103845C>G (TTN) MANE Select NP_001254479.2:p.Tyr34615Ter
ENST00000589042.5:c.103845C>G (TTN) MANE Select ENSP00000467141.1:p.Tyr34615Ter
NM_001256850.1:c.98922C>G (TTN) NP_001243779.1:p.Tyr32974Ter
NM_003319.4:c.76650C>G (TTN) NP_003310.4:p.Tyr25550Ter
NM_133378.4:c.96141C>G (TTN) NP_596869.4:p.Tyr32047Ter
NM_133432.3:c.77025C>G (TTN) NP_597676.3:p.Tyr25675Ter
NM_133437.4:c.77226C>G (TTN) NP_597681.4:p.Tyr25742Ter
NR_038271.1:n.446+9134G>C (TTN-AS1)
NR_038272.1:n.220-2962G>C (TTN-AS1)
ENST00000342175.10:c.77226C>G (TTN) ENSP00000340554.6:p.Tyr25742Ter
ENST00000342175.11:c.77226C>G (TTN) ENSP00000340554.6:p.Tyr25742Ter
ENST00000342992.10:c.96141C>G (TTN) ENSP00000343764.6:p.Tyr32047Ter
ENST00000342992.11:c.96141C>G (TTN) ENSP00000343764.6:p.Tyr32047Ter
ENST00000359218.10:c.77025C>G (TTN) ENSP00000352154.5:p.Tyr25675Ter
ENST00000359218.9:c.77025C>G (TTN) ENSP00000352154.5:p.Tyr25675Ter
ENST00000460472.6:c.76650C>G (TTN) ENSP00000434586.1:p.Tyr25550Ter
ENST00000591111.5:c.98922C>G (TTN) ENSP00000465570.1:p.Tyr32974Ter
ENST00000615779.4:c.98922C>G (TTN) ENSP00000483597.1:p.Tyr32974Ter
XM_011511729.1:c.102942C>G (TTN) XP_011510031.1:p.Tyr34314Ter
XM_011511730.1:c.76836C>G (TTN) XP_011510032.1:p.Tyr25612Ter
XM_011511731.1:c.76695C>G (TTN) XP_011510033.1:p.Tyr25565Ter
XM_017004819.1:c.102738C>G (TTN) XP_016860308.1:p.Tyr34246Ter
XM_017004820.1:c.98136C>G (TTN) XP_016860309.1:p.Tyr32712Ter
XM_017004821.1:c.98133C>G (TTN) XP_016860310.1:p.Tyr32711Ter
XM_017004822.1:c.95175C>G (TTN) XP_016860311.1:p.Tyr31725Ter
XM_017004823.1:c.76791C>G (TTN) XP_016860312.1:p.Tyr25597Ter
XM_024453094.1:c.98286C>G (TTN) XP_024308862.1:p.Tyr32762Ter
XM_024453095.1:c.98283C>G (TTN) XP_024308863.1:p.Tyr32761Ter
XM_024453096.1:c.97716C>G (TTN) XP_024308864.1:p.Tyr32572Ter
XM_024453097.1:c.95058C>G (TTN) XP_024308865.1:p.Tyr31686Ter
XM_024453098.1:c.94977C>G (TTN) XP_024308866.1:p.Tyr31659Ter
XM_024453099.1:c.76740C>G (TTN) XP_024308867.1:p.Tyr25580Ter
XM_024453100.1:c.66594C>G (TTN) XP_024308868.1:p.Tyr22198Ter