Canonical Allele Identifier: CA1986466

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178540223G>T , CM000664.2:g.178540223G>T GRCh38
NC_000002.11:g.179404950G>T , CM000664.1:g.179404950G>T GRCh37
NC_000002.10:g.179113196G>T NCBI36
NG_011618.3:g.295580C>A , LRG_391:g.295580C>A
NG_051363.1:g.22397G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.90239C>A (TTN) ENSP00000343764.6:p.Thr30080Asn
ENST00000342175.11:c.71324C>A (TTN) ENSP00000340554.6:p.Thr23775Asn
ENST00000359218.10:c.71123C>A (TTN) ENSP00000352154.5:p.Thr23708Asn
ENST00000342175.10:c.71324C>A (TTN) ENSP00000340554.6:p.Thr23775Asn
ENST00000342992.10:c.90239C>A (TTN) ENSP00000343764.6:p.Thr30080Asn
ENST00000359218.9:c.71123C>A (TTN) ENSP00000352154.5:p.Thr23708Asn
ENST00000460472.6:c.70748C>A (TTN) ENSP00000434586.1:p.Thr23583Asn
ENST00000589042.5:c.97943C>A (TTN) MANE Select ENSP00000467141.1:p.Thr32648Asn
ENST00000591111.5:c.93020C>A (TTN) ENSP00000465570.1:p.Thr31007Asn
ENST00000615779.4:c.93020C>A (TTN) ENSP00000483597.1:p.Thr31007Asn
NM_001256850.1:c.93020C>A (TTN) NP_001243779.1:p.Thr31007Asn
NM_001267550.2:c.97943C>A (TTN) MANE Select NP_001254479.2:p.Thr32648Asn
NM_003319.4:c.70748C>A (TTN) NP_003310.4:p.Thr23583Asn
NM_133378.4:c.90239C>A (TTN) NP_596869.4:p.Thr30080Asn
NM_133432.3:c.71123C>A (TTN) NP_597676.3:p.Thr23708Asn
NM_133437.4:c.71324C>A (TTN) NP_597681.4:p.Thr23775Asn
NR_038271.1:n.446+16587G>T (TTN-AS1)
NR_038272.1:n.1903+54G>T (TTN-AS1)
XM_011511729.1:c.97040C>A (TTN) XP_011510031.1:p.Thr32347Asn
XM_011511730.1:c.70934C>A (TTN) XP_011510032.1:p.Thr23645Asn
XM_011511731.1:c.70793C>A (TTN) XP_011510033.1:p.Thr23598Asn
XM_017004819.1:c.96836C>A (TTN) XP_016860308.1:p.Thr32279Asn
XM_017004820.1:c.92234C>A (TTN) XP_016860309.1:p.Thr30745Asn
XM_017004821.1:c.92231C>A (TTN) XP_016860310.1:p.Thr30744Asn
XM_017004822.1:c.89273C>A (TTN) XP_016860311.1:p.Thr29758Asn
XM_017004823.1:c.70889C>A (TTN) XP_016860312.1:p.Thr23630Asn
XM_024453094.1:c.92384C>A (TTN) XP_024308862.1:p.Thr30795Asn
XM_024453095.1:c.92381C>A (TTN) XP_024308863.1:p.Thr30794Asn
XM_024453096.1:c.91814C>A (TTN) XP_024308864.1:p.Thr30605Asn
XM_024453097.1:c.89156C>A (TTN) XP_024308865.1:p.Thr29719Asn
XM_024453098.1:c.89075C>A (TTN) XP_024308866.1:p.Thr29692Asn
XM_024453099.1:c.70838C>A (TTN) XP_024308867.1:p.Thr23613Asn
XM_024453100.1:c.60692C>A (TTN) XP_024308868.1:p.Thr20231Asn