Canonical Allele Identifier: CA349411904

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532252C>T , CM000664.2:g.178532252C>T GRCh38
NC_000002.11:g.179396979C>T , CM000664.1:g.179396979C>T GRCh37
NC_000002.10:g.179105225C>T NCBI36
NG_011618.3:g.303551G>A , LRG_391:g.303551G>A
NG_051363.1:g.14426C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96659G>A (TTN) ENSP00000343764.6:p.Ser32220Asn
ENST00000342175.11:c.77744G>A (TTN) ENSP00000340554.6:p.Ser25915Asn
ENST00000359218.10:c.77543G>A (TTN) ENSP00000352154.5:p.Ser25848Asn
ENST00000342175.10:c.77744G>A (TTN) ENSP00000340554.6:p.Ser25915Asn
ENST00000342992.10:c.96659G>A (TTN) ENSP00000343764.6:p.Ser32220Asn
ENST00000359218.9:c.77543G>A (TTN) ENSP00000352154.5:p.Ser25848Asn
ENST00000460472.6:c.77168G>A (TTN) ENSP00000434586.1:p.Ser25723Asn
ENST00000589042.5:c.104363G>A (TTN) MANE Select ENSP00000467141.1:p.Ser34788Asn
ENST00000591111.5:c.99440G>A (TTN) ENSP00000465570.1:p.Ser33147Asn
ENST00000615779.4:c.99440G>A (TTN) ENSP00000483597.1:p.Ser33147Asn
NM_001256850.1:c.99440G>A (TTN) NP_001243779.1:p.Ser33147Asn
NM_001267550.2:c.104363G>A (TTN) MANE Select NP_001254479.2:p.Ser34788Asn
NM_003319.4:c.77168G>A (TTN) NP_003310.4:p.Ser25723Asn
NM_133378.4:c.96659G>A (TTN) NP_596869.4:p.Ser32220Asn
NM_133432.3:c.77543G>A (TTN) NP_597676.3:p.Ser25848Asn
NM_133437.4:c.77744G>A (TTN) NP_597681.4:p.Ser25915Asn
NR_038271.1:n.446+8616C>T (TTN-AS1)
NR_038272.1:n.220-3480C>T (TTN-AS1)
XM_011511729.1:c.103460G>A (TTN) XP_011510031.1:p.Ser34487Asn
XM_011511730.1:c.77354G>A (TTN) XP_011510032.1:p.Ser25785Asn
XM_011511731.1:c.77213G>A (TTN) XP_011510033.1:p.Ser25738Asn
XM_017004819.1:c.103256G>A (TTN) XP_016860308.1:p.Ser34419Asn
XM_017004820.1:c.98654G>A (TTN) XP_016860309.1:p.Ser32885Asn
XM_017004821.1:c.98651G>A (TTN) XP_016860310.1:p.Ser32884Asn
XM_017004822.1:c.95693G>A (TTN) XP_016860311.1:p.Ser31898Asn
XM_017004823.1:c.77309G>A (TTN) XP_016860312.1:p.Ser25770Asn
XM_024453094.1:c.98804G>A (TTN) XP_024308862.1:p.Ser32935Asn
XM_024453095.1:c.98801G>A (TTN) XP_024308863.1:p.Ser32934Asn
XM_024453096.1:c.98234G>A (TTN) XP_024308864.1:p.Ser32745Asn
XM_024453097.1:c.95576G>A (TTN) XP_024308865.1:p.Ser31859Asn
XM_024453098.1:c.95495G>A (TTN) XP_024308866.1:p.Ser31832Asn
XM_024453099.1:c.77258G>A (TTN) XP_024308867.1:p.Ser25753Asn
XM_024453100.1:c.67112G>A (TTN) XP_024308868.1:p.Ser22371Asn