Canonical Allele Identifier: CA349427107

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537168G>T , CM000664.2:g.178537168G>T GRCh38
NC_000002.11:g.179401895G>T , CM000664.1:g.179401895G>T GRCh37
NC_000002.10:g.179110141G>T NCBI36
NG_011618.3:g.298635C>A , LRG_391:g.298635C>A
NG_051363.1:g.19342G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92237C>A (TTN) ENSP00000343764.6:p.Pro30746Gln
ENST00000342175.11:c.73322C>A (TTN) ENSP00000340554.6:p.Pro24441Gln
ENST00000359218.10:c.73121C>A (TTN) ENSP00000352154.5:p.Pro24374Gln
ENST00000342175.10:c.73322C>A (TTN) ENSP00000340554.6:p.Pro24441Gln
ENST00000342992.10:c.92237C>A (TTN) ENSP00000343764.6:p.Pro30746Gln
ENST00000359218.9:c.73121C>A (TTN) ENSP00000352154.5:p.Pro24374Gln
ENST00000460472.6:c.72746C>A (TTN) ENSP00000434586.1:p.Pro24249Gln
ENST00000589042.5:c.99941C>A (TTN) MANE Select ENSP00000467141.1:p.Pro33314Gln
ENST00000591111.5:c.95018C>A (TTN) ENSP00000465570.1:p.Pro31673Gln
ENST00000615779.4:c.95018C>A (TTN) ENSP00000483597.1:p.Pro31673Gln
NM_001256850.1:c.95018C>A (TTN) NP_001243779.1:p.Pro31673Gln
NM_001267550.2:c.99941C>A (TTN) MANE Select NP_001254479.2:p.Pro33314Gln
NM_003319.4:c.72746C>A (TTN) NP_003310.4:p.Pro24249Gln
NM_133378.4:c.92237C>A (TTN) NP_596869.4:p.Pro30746Gln
NM_133432.3:c.73121C>A (TTN) NP_597676.3:p.Pro24374Gln
NM_133437.4:c.73322C>A (TTN) NP_597681.4:p.Pro24441Gln
NR_038271.1:n.446+13532G>T (TTN-AS1)
NR_038272.1:n.317-193G>T (TTN-AS1)
XM_011511729.1:c.99038C>A (TTN) XP_011510031.1:p.Pro33013Gln
XM_011511730.1:c.72932C>A (TTN) XP_011510032.1:p.Pro24311Gln
XM_011511731.1:c.72791C>A (TTN) XP_011510033.1:p.Pro24264Gln
XM_017004819.1:c.98834C>A (TTN) XP_016860308.1:p.Pro32945Gln
XM_017004820.1:c.94232C>A (TTN) XP_016860309.1:p.Pro31411Gln
XM_017004821.1:c.94229C>A (TTN) XP_016860310.1:p.Pro31410Gln
XM_017004822.1:c.91271C>A (TTN) XP_016860311.1:p.Pro30424Gln
XM_017004823.1:c.72887C>A (TTN) XP_016860312.1:p.Pro24296Gln
XM_024453094.1:c.94382C>A (TTN) XP_024308862.1:p.Pro31461Gln
XM_024453095.1:c.94379C>A (TTN) XP_024308863.1:p.Pro31460Gln
XM_024453096.1:c.93812C>A (TTN) XP_024308864.1:p.Pro31271Gln
XM_024453097.1:c.91154C>A (TTN) XP_024308865.1:p.Pro30385Gln
XM_024453098.1:c.91073C>A (TTN) XP_024308866.1:p.Pro30358Gln
XM_024453099.1:c.72836C>A (TTN) XP_024308867.1:p.Pro24279Gln
XM_024453100.1:c.62690C>A (TTN) XP_024308868.1:p.Pro20897Gln