Canonical Allele Identifier: CA1985263
Community Standard Title: NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531192G>C , CM000664.2:g.178531192G>C GRCh38
NC_000002.11:g.179395919G>C , CM000664.1:g.179395919G>C GRCh37
NC_000002.10:g.179104165G>C NCBI36
NG_011618.3:g.304611C>G , LRG_391:g.304611C>G
NG_051363.1:g.13366G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.105423C>G (TTN) MANE Select NP_001254479.2:p.Tyr35141Ter
ENST00000589042.5:c.105423C>G (TTN) MANE Select ENSP00000467141.1:p.Tyr35141Ter
NM_001256850.1:c.100500C>G (TTN) NP_001243779.1:p.Tyr33500Ter
NM_003319.4:c.78228C>G (TTN) NP_003310.4:p.Tyr26076Ter
NM_133378.4:c.97719C>G (TTN) NP_596869.4:p.Tyr32573Ter
NM_133432.3:c.78603C>G (TTN) NP_597676.3:p.Tyr26201Ter
NM_133437.4:c.78804C>G (TTN) NP_597681.4:p.Tyr26268Ter
NR_038271.1:n.446+7556G>C (TTN-AS1)
NR_038272.1:n.220-4540G>C (TTN-AS1)
ENST00000342175.10:c.78804C>G (TTN) ENSP00000340554.6:p.Tyr26268Ter
ENST00000342175.11:c.78804C>G (TTN) ENSP00000340554.6:p.Tyr26268Ter
ENST00000342992.10:c.97719C>G (TTN) ENSP00000343764.6:p.Tyr32573Ter
ENST00000342992.11:c.97719C>G (TTN) ENSP00000343764.6:p.Tyr32573Ter
ENST00000359218.10:c.78603C>G (TTN) ENSP00000352154.5:p.Tyr26201Ter
ENST00000359218.9:c.78603C>G (TTN) ENSP00000352154.5:p.Tyr26201Ter
ENST00000460472.6:c.78228C>G (TTN) ENSP00000434586.1:p.Tyr26076Ter
ENST00000591111.5:c.100500C>G (TTN) ENSP00000465570.1:p.Tyr33500Ter
ENST00000615779.4:c.100500C>G (TTN) ENSP00000483597.1:p.Tyr33500Ter
XM_011511729.1:c.104520C>G (TTN) XP_011510031.1:p.Tyr34840Ter
XM_011511730.1:c.78414C>G (TTN) XP_011510032.1:p.Tyr26138Ter
XM_011511731.1:c.78273C>G (TTN) XP_011510033.1:p.Tyr26091Ter
XM_017004819.1:c.104316C>G (TTN) XP_016860308.1:p.Tyr34772Ter
XM_017004820.1:c.99714C>G (TTN) XP_016860309.1:p.Tyr33238Ter
XM_017004821.1:c.99711C>G (TTN) XP_016860310.1:p.Tyr33237Ter
XM_017004822.1:c.96753C>G (TTN) XP_016860311.1:p.Tyr32251Ter
XM_017004823.1:c.78369C>G (TTN) XP_016860312.1:p.Tyr26123Ter
XM_024453094.1:c.99864C>G (TTN) XP_024308862.1:p.Tyr33288Ter
XM_024453095.1:c.99861C>G (TTN) XP_024308863.1:p.Tyr33287Ter
XM_024453096.1:c.99294C>G (TTN) XP_024308864.1:p.Tyr33098Ter
XM_024453097.1:c.96636C>G (TTN) XP_024308865.1:p.Tyr32212Ter
XM_024453098.1:c.96555C>G (TTN) XP_024308866.1:p.Tyr32185Ter
XM_024453099.1:c.78318C>G (TTN) XP_024308867.1:p.Tyr26106Ter
XM_024453100.1:c.68172C>G (TTN) XP_024308868.1:p.Tyr22724Ter