Canonical Allele Identifier: CA349427799

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537576C>T , CM000664.2:g.178537576C>T GRCh38
NC_000002.11:g.179402303C>T , CM000664.1:g.179402303C>T GRCh37
NC_000002.10:g.179110549C>T NCBI36
NG_011618.3:g.298227G>A , LRG_391:g.298227G>A
NG_051363.1:g.19750C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.91927G>A (TTN) ENSP00000343764.6:p.Gly30643Ser
ENST00000342175.11:c.73012G>A (TTN) ENSP00000340554.6:p.Gly24338Ser
ENST00000359218.10:c.72811G>A (TTN) ENSP00000352154.5:p.Gly24271Ser
ENST00000342175.10:c.73012G>A (TTN) ENSP00000340554.6:p.Gly24338Ser
ENST00000342992.10:c.91927G>A (TTN) ENSP00000343764.6:p.Gly30643Ser
ENST00000359218.9:c.72811G>A (TTN) ENSP00000352154.5:p.Gly24271Ser
ENST00000460472.6:c.72436G>A (TTN) ENSP00000434586.1:p.Gly24146Ser
ENST00000589042.5:c.99631G>A (TTN) MANE Select ENSP00000467141.1:p.Gly33211Ser
ENST00000591111.5:c.94708G>A (TTN) ENSP00000465570.1:p.Gly31570Ser
ENST00000615779.4:c.94708G>A (TTN) ENSP00000483597.1:p.Gly31570Ser
NM_001256850.1:c.94708G>A (TTN) NP_001243779.1:p.Gly31570Ser
NM_001267550.2:c.99631G>A (TTN) MANE Select NP_001254479.2:p.Gly33211Ser
NM_003319.4:c.72436G>A (TTN) NP_003310.4:p.Gly24146Ser
NM_133378.4:c.91927G>A (TTN) NP_596869.4:p.Gly30643Ser
NM_133432.3:c.72811G>A (TTN) NP_597676.3:p.Gly24271Ser
NM_133437.4:c.73012G>A (TTN) NP_597681.4:p.Gly24338Ser
NR_038271.1:n.446+13940C>T (TTN-AS1)
NR_038272.1:n.532C>T (TTN-AS1)
XM_011511729.1:c.98728G>A (TTN) XP_011510031.1:p.Gly32910Ser
XM_011511730.1:c.72622G>A (TTN) XP_011510032.1:p.Gly24208Ser
XM_011511731.1:c.72481G>A (TTN) XP_011510033.1:p.Gly24161Ser
XM_017004819.1:c.98524G>A (TTN) XP_016860308.1:p.Gly32842Ser
XM_017004820.1:c.93922G>A (TTN) XP_016860309.1:p.Gly31308Ser
XM_017004821.1:c.93919G>A (TTN) XP_016860310.1:p.Gly31307Ser
XM_017004822.1:c.90961G>A (TTN) XP_016860311.1:p.Gly30321Ser
XM_017004823.1:c.72577G>A (TTN) XP_016860312.1:p.Gly24193Ser
XM_024453094.1:c.94072G>A (TTN) XP_024308862.1:p.Gly31358Ser
XM_024453095.1:c.94069G>A (TTN) XP_024308863.1:p.Gly31357Ser
XM_024453096.1:c.93502G>A (TTN) XP_024308864.1:p.Gly31168Ser
XM_024453097.1:c.90844G>A (TTN) XP_024308865.1:p.Gly30282Ser
XM_024453098.1:c.90763G>A (TTN) XP_024308866.1:p.Gly30255Ser
XM_024453099.1:c.72526G>A (TTN) XP_024308867.1:p.Gly24176Ser
XM_024453100.1:c.62380G>A (TTN) XP_024308868.1:p.Gly20794Ser