Canonical Allele Identifier: CA349411362

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532031G>C , CM000664.2:g.178532031G>C GRCh38
NC_000002.11:g.179396758G>C , CM000664.1:g.179396758G>C GRCh37
NC_000002.10:g.179105004G>C NCBI36
NG_011618.3:g.303772C>G , LRG_391:g.303772C>G
NG_051363.1:g.14205G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96880C>G (TTN) ENSP00000343764.6:p.Pro32294Ala
ENST00000342175.11:c.77965C>G (TTN) ENSP00000340554.6:p.Pro25989Ala
ENST00000359218.10:c.77764C>G (TTN) ENSP00000352154.5:p.Pro25922Ala
ENST00000342175.10:c.77965C>G (TTN) ENSP00000340554.6:p.Pro25989Ala
ENST00000342992.10:c.96880C>G (TTN) ENSP00000343764.6:p.Pro32294Ala
ENST00000359218.9:c.77764C>G (TTN) ENSP00000352154.5:p.Pro25922Ala
ENST00000460472.6:c.77389C>G (TTN) ENSP00000434586.1:p.Pro25797Ala
ENST00000589042.5:c.104584C>G (TTN) MANE Select ENSP00000467141.1:p.Pro34862Ala
ENST00000591111.5:c.99661C>G (TTN) ENSP00000465570.1:p.Pro33221Ala
ENST00000615779.4:c.99661C>G (TTN) ENSP00000483597.1:p.Pro33221Ala
NM_001256850.1:c.99661C>G (TTN) NP_001243779.1:p.Pro33221Ala
NM_001267550.2:c.104584C>G (TTN) MANE Select NP_001254479.2:p.Pro34862Ala
NM_003319.4:c.77389C>G (TTN) NP_003310.4:p.Pro25797Ala
NM_133378.4:c.96880C>G (TTN) NP_596869.4:p.Pro32294Ala
NM_133432.3:c.77764C>G (TTN) NP_597676.3:p.Pro25922Ala
NM_133437.4:c.77965C>G (TTN) NP_597681.4:p.Pro25989Ala
NR_038271.1:n.446+8395G>C (TTN-AS1)
NR_038272.1:n.220-3701G>C (TTN-AS1)
XM_011511729.1:c.103681C>G (TTN) XP_011510031.1:p.Pro34561Ala
XM_011511730.1:c.77575C>G (TTN) XP_011510032.1:p.Pro25859Ala
XM_011511731.1:c.77434C>G (TTN) XP_011510033.1:p.Pro25812Ala
XM_017004819.1:c.103477C>G (TTN) XP_016860308.1:p.Pro34493Ala
XM_017004820.1:c.98875C>G (TTN) XP_016860309.1:p.Pro32959Ala
XM_017004821.1:c.98872C>G (TTN) XP_016860310.1:p.Pro32958Ala
XM_017004822.1:c.95914C>G (TTN) XP_016860311.1:p.Pro31972Ala
XM_017004823.1:c.77530C>G (TTN) XP_016860312.1:p.Pro25844Ala
XM_024453094.1:c.99025C>G (TTN) XP_024308862.1:p.Pro33009Ala
XM_024453095.1:c.99022C>G (TTN) XP_024308863.1:p.Pro33008Ala
XM_024453096.1:c.98455C>G (TTN) XP_024308864.1:p.Pro32819Ala
XM_024453097.1:c.95797C>G (TTN) XP_024308865.1:p.Pro31933Ala
XM_024453098.1:c.95716C>G (TTN) XP_024308866.1:p.Pro31906Ala
XM_024453099.1:c.77479C>G (TTN) XP_024308867.1:p.Pro25827Ala
XM_024453100.1:c.67333C>G (TTN) XP_024308868.1:p.Pro22445Ala