Canonical Allele Identifier: CA349618100

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618048G>T , CM000664.2:g.178618048G>T GRCh38
NC_000002.11:g.179482775G>T , CM000664.1:g.179482775G>T GRCh37
NC_000002.10:g.179191020G>T NCBI36
NG_011618.3:g.217755C>A , LRG_391:g.217755C>A
NG_051363.1:g.100222G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.39599C>A (TTN) ENSP00000343764.6:p.Thr13200Asn
ENST00000342175.11:c.20684C>A (TTN) ENSP00000340554.6:p.Thr6895Asn
ENST00000359218.10:c.20483C>A (TTN) ENSP00000352154.5:p.Thr6828Asn
ENST00000342175.10:c.20684C>A (TTN) ENSP00000340554.6:p.Thr6895Asn
ENST00000342992.10:c.39599C>A (TTN) ENSP00000343764.6:p.Thr13200Asn
ENST00000359218.9:c.20483C>A (TTN) ENSP00000352154.5:p.Thr6828Asn
ENST00000460472.6:c.20108C>A (TTN) ENSP00000434586.1:p.Thr6703Asn
ENST00000589042.5:c.47303C>A (TTN) MANE Select ENSP00000467141.1:p.Thr15768Asn
ENST00000591111.5:c.42380C>A (TTN) ENSP00000465570.1:p.Thr14127Asn
ENST00000615779.4:c.42380C>A (TTN) ENSP00000483597.1:p.Thr14127Asn
NM_001256850.1:c.42380C>A (TTN) NP_001243779.1:p.Thr14127Asn
NM_001267550.2:c.47303C>A (TTN) MANE Select NP_001254479.2:p.Thr15768Asn
NM_003319.4:c.20108C>A (TTN) NP_003310.4:p.Thr6703Asn
NM_133378.4:c.39599C>A (TTN) NP_596869.4:p.Thr13200Asn
NM_133432.3:c.20483C>A (TTN) NP_597676.3:p.Thr6828Asn
NM_133437.4:c.20684C>A (TTN) NP_597681.4:p.Thr6895Asn
NR_038271.1:n.1605-1705G>T (TTN-AS1)
XM_011511729.1:c.46400C>A (TTN) XP_011510031.1:p.Thr15467Asn
XM_011511730.1:c.20294C>A (TTN) XP_011510032.1:p.Thr6765Asn
XM_011511731.1:c.20153C>A (TTN) XP_011510033.1:p.Thr6718Asn
XM_017004819.1:c.46196C>A (TTN) XP_016860308.1:p.Thr15399Asn
XM_017004820.1:c.41594C>A (TTN) XP_016860309.1:p.Thr13865Asn
XM_017004821.1:c.41591C>A (TTN) XP_016860310.1:p.Thr13864Asn
XM_017004822.1:c.38633C>A (TTN) XP_016860311.1:p.Thr12878Asn
XM_017004823.1:c.20249C>A (TTN) XP_016860312.1:p.Thr6750Asn
XM_024453094.1:c.41744C>A (TTN) XP_024308862.1:p.Thr13915Asn
XM_024453095.1:c.41741C>A (TTN) XP_024308863.1:p.Thr13914Asn
XM_024453096.1:c.41174C>A (TTN) XP_024308864.1:p.Thr13725Asn
XM_024453097.1:c.38516C>A (TTN) XP_024308865.1:p.Thr12839Asn
XM_024453098.1:c.38435C>A (TTN) XP_024308866.1:p.Thr12812Asn
XM_024453099.1:c.20198C>A (TTN) XP_024308867.1:p.Thr6733Asn
XM_024453100.1:c.10052C>A (TTN) XP_024308868.1:p.Thr3351Asn