Canonical Allele Identifier: CA349581326

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178564612G>A , CM000664.2:g.178564612G>A GRCh38
NC_000002.11:g.179429339G>A , CM000664.1:g.179429339G>A GRCh37
NC_000002.10:g.179137585G>A NCBI36
NG_011618.3:g.271191C>T , LRG_391:g.271191C>T
NG_051363.1:g.46786G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.73816C>T (TTN) ENSP00000343764.6:p.Pro24606Ser
ENST00000342175.11:c.54901C>T (TTN) ENSP00000340554.6:p.Pro18301Ser
ENST00000359218.10:c.54700C>T (TTN) ENSP00000352154.5:p.Pro18234Ser
ENST00000342175.10:c.54901C>T (TTN) ENSP00000340554.6:p.Pro18301Ser
ENST00000342992.10:c.73816C>T (TTN) ENSP00000343764.6:p.Pro24606Ser
ENST00000359218.9:c.54700C>T (TTN) ENSP00000352154.5:p.Pro18234Ser
ENST00000460472.6:c.54325C>T (TTN) ENSP00000434586.1:p.Pro18109Ser
ENST00000589042.5:c.81520C>T (TTN) MANE Select ENSP00000467141.1:p.Pro27174Ser
ENST00000591111.5:c.76597C>T (TTN) ENSP00000465570.1:p.Pro25533Ser
ENST00000615779.4:c.76597C>T (TTN) ENSP00000483597.1:p.Pro25533Ser
NM_001256850.1:c.76597C>T (TTN) NP_001243779.1:p.Pro25533Ser
NM_001267550.2:c.81520C>T (TTN) MANE Select NP_001254479.2:p.Pro27174Ser
NM_003319.4:c.54325C>T (TTN) NP_003310.4:p.Pro18109Ser
NM_133378.4:c.73816C>T (TTN) NP_596869.4:p.Pro24606Ser
NM_133432.3:c.54700C>T (TTN) NP_597676.3:p.Pro18234Ser
NM_133437.4:c.54901C>T (TTN) NP_597681.4:p.Pro18301Ser
NR_038271.1:n.447-6688G>A (TTN-AS1)
NR_038272.1:n.2044-17960G>A (TTN-AS1)
XM_011511729.1:c.80617C>T (TTN) XP_011510031.1:p.Pro26873Ser
XM_011511730.1:c.54511C>T (TTN) XP_011510032.1:p.Pro18171Ser
XM_011511731.1:c.54370C>T (TTN) XP_011510033.1:p.Pro18124Ser
XM_017004819.1:c.80413C>T (TTN) XP_016860308.1:p.Pro26805Ser
XM_017004820.1:c.75811C>T (TTN) XP_016860309.1:p.Pro25271Ser
XM_017004821.1:c.75808C>T (TTN) XP_016860310.1:p.Pro25270Ser
XM_017004822.1:c.72850C>T (TTN) XP_016860311.1:p.Pro24284Ser
XM_017004823.1:c.54466C>T (TTN) XP_016860312.1:p.Pro18156Ser
XM_024453094.1:c.75961C>T (TTN) XP_024308862.1:p.Pro25321Ser
XM_024453095.1:c.75958C>T (TTN) XP_024308863.1:p.Pro25320Ser
XM_024453096.1:c.75391C>T (TTN) XP_024308864.1:p.Pro25131Ser
XM_024453097.1:c.72733C>T (TTN) XP_024308865.1:p.Pro24245Ser
XM_024453098.1:c.72652C>T (TTN) XP_024308866.1:p.Pro24218Ser
XM_024453099.1:c.54415C>T (TTN) XP_024308867.1:p.Pro18139Ser
XM_024453100.1:c.44269C>T (TTN) XP_024308868.1:p.Pro14757Ser