Canonical Allele Identifier: CA349454297

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544097A>G , CM000664.2:g.178544097A>G GRCh38
NC_000002.11:g.179408824A>G , CM000664.1:g.179408824A>G GRCh37
NC_000002.10:g.179117070A>G NCBI36
NG_011618.3:g.291706T>C , LRG_391:g.291706T>C
NG_051363.1:g.26271A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88343T>C (TTN) ENSP00000343764.6:p.Leu29448Pro
ENST00000342175.11:c.69428T>C (TTN) ENSP00000340554.6:p.Leu23143Pro
ENST00000359218.10:c.69227T>C (TTN) ENSP00000352154.5:p.Leu23076Pro
ENST00000342175.10:c.69428T>C (TTN) ENSP00000340554.6:p.Leu23143Pro
ENST00000342992.10:c.88343T>C (TTN) ENSP00000343764.6:p.Leu29448Pro
ENST00000359218.9:c.69227T>C (TTN) ENSP00000352154.5:p.Leu23076Pro
ENST00000460472.6:c.68852T>C (TTN) ENSP00000434586.1:p.Leu22951Pro
ENST00000589042.5:c.96047T>C (TTN) MANE Select ENSP00000467141.1:p.Leu32016Pro
ENST00000591111.5:c.91124T>C (TTN) ENSP00000465570.1:p.Leu30375Pro
ENST00000615779.4:c.91124T>C (TTN) ENSP00000483597.1:p.Leu30375Pro
NM_001256850.1:c.91124T>C (TTN) NP_001243779.1:p.Leu30375Pro
NM_001267550.2:c.96047T>C (TTN) MANE Select NP_001254479.2:p.Leu32016Pro
NM_003319.4:c.68852T>C (TTN) NP_003310.4:p.Leu22951Pro
NM_133378.4:c.88343T>C (TTN) NP_596869.4:p.Leu29448Pro
NM_133432.3:c.69227T>C (TTN) NP_597676.3:p.Leu23076Pro
NM_133437.4:c.69428T>C (TTN) NP_597681.4:p.Leu23143Pro
NR_038271.1:n.446+20461A>G (TTN-AS1)
NR_038272.1:n.2043+1736A>G (TTN-AS1)
XM_011511729.1:c.95144T>C (TTN) XP_011510031.1:p.Leu31715Pro
XM_011511730.1:c.69038T>C (TTN) XP_011510032.1:p.Leu23013Pro
XM_011511731.1:c.68897T>C (TTN) XP_011510033.1:p.Leu22966Pro
XM_017004819.1:c.94940T>C (TTN) XP_016860308.1:p.Leu31647Pro
XM_017004820.1:c.90338T>C (TTN) XP_016860309.1:p.Leu30113Pro
XM_017004821.1:c.90335T>C (TTN) XP_016860310.1:p.Leu30112Pro
XM_017004822.1:c.87377T>C (TTN) XP_016860311.1:p.Leu29126Pro
XM_017004823.1:c.68993T>C (TTN) XP_016860312.1:p.Leu22998Pro
XM_024453094.1:c.90488T>C (TTN) XP_024308862.1:p.Leu30163Pro
XM_024453095.1:c.90485T>C (TTN) XP_024308863.1:p.Leu30162Pro
XM_024453096.1:c.89918T>C (TTN) XP_024308864.1:p.Leu29973Pro
XM_024453097.1:c.87260T>C (TTN) XP_024308865.1:p.Leu29087Pro
XM_024453098.1:c.87179T>C (TTN) XP_024308866.1:p.Leu29060Pro
XM_024453099.1:c.68942T>C (TTN) XP_024308867.1:p.Leu22981Pro
XM_024453100.1:c.58796T>C (TTN) XP_024308868.1:p.Leu19599Pro