Canonical Allele Identifier: CA349398197

Linked Data

dbSNP Id: rs2154129771

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527043G>T , CM000664.2:g.178527043G>T GRCh38
NC_000002.11:g.179391770G>T , CM000664.1:g.179391770G>T GRCh37
NC_000002.10:g.179100016G>T NCBI36
NG_011618.3:g.308760C>A , LRG_391:g.308760C>A
NG_051363.1:g.9217G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100241C>A (TTN) ENSP00000343764.6:p.Ala33414Asp
ENST00000342175.11:c.81326C>A (TTN) ENSP00000340554.6:p.Ala27109Asp
ENST00000359218.10:c.81125C>A (TTN) ENSP00000352154.5:p.Ala27042Asp
ENST00000342175.10:c.81326C>A (TTN) ENSP00000340554.6:p.Ala27109Asp
ENST00000342992.10:c.100241C>A (TTN) ENSP00000343764.6:p.Ala33414Asp
ENST00000359218.9:c.81125C>A (TTN) ENSP00000352154.5:p.Ala27042Asp
ENST00000460472.6:c.80750C>A (TTN) ENSP00000434586.1:p.Ala26917Asp
ENST00000589042.5:c.107945C>A (TTN) MANE Select ENSP00000467141.1:p.Ala35982Asp
ENST00000591111.5:c.103022C>A (TTN) ENSP00000465570.1:p.Ala34341Asp
ENST00000615779.4:c.103022C>A (TTN) ENSP00000483597.1:p.Ala34341Asp
NM_001256850.1:c.103022C>A (TTN) NP_001243779.1:p.Ala34341Asp
NM_001267550.2:c.107945C>A (TTN) MANE Select NP_001254479.2:p.Ala35982Asp
NM_003319.4:c.80750C>A (TTN) NP_003310.4:p.Ala26917Asp
NM_133378.4:c.100241C>A (TTN) NP_596869.4:p.Ala33414Asp
NM_133432.3:c.81125C>A (TTN) NP_597676.3:p.Ala27042Asp
NM_133437.4:c.81326C>A (TTN) NP_597681.4:p.Ala27109Asp
NR_038271.1:n.446+3407G>T (TTN-AS1)
NR_038272.1:n.219+3407G>T (TTN-AS1)
XM_011511729.1:c.107042C>A (TTN) XP_011510031.1:p.Ala35681Asp
XM_011511730.1:c.80936C>A (TTN) XP_011510032.1:p.Ala26979Asp
XM_011511731.1:c.80795C>A (TTN) XP_011510033.1:p.Ala26932Asp
XM_017004819.1:c.106838C>A (TTN) XP_016860308.1:p.Ala35613Asp
XM_017004820.1:c.102236C>A (TTN) XP_016860309.1:p.Ala34079Asp
XM_017004821.1:c.102233C>A (TTN) XP_016860310.1:p.Ala34078Asp
XM_017004822.1:c.99275C>A (TTN) XP_016860311.1:p.Ala33092Asp
XM_017004823.1:c.80891C>A (TTN) XP_016860312.1:p.Ala26964Asp
XM_024453094.1:c.102386C>A (TTN) XP_024308862.1:p.Ala34129Asp
XM_024453095.1:c.102383C>A (TTN) XP_024308863.1:p.Ala34128Asp
XM_024453096.1:c.101816C>A (TTN) XP_024308864.1:p.Ala33939Asp
XM_024453097.1:c.99158C>A (TTN) XP_024308865.1:p.Ala33053Asp
XM_024453098.1:c.99077C>A (TTN) XP_024308866.1:p.Ala33026Asp
XM_024453099.1:c.80840C>A (TTN) XP_024308867.1:p.Ala26947Asp
XM_024453100.1:c.70694C>A (TTN) XP_024308868.1:p.Ala23565Asp