Canonical Allele Identifier: CA349406003

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530276G>T , CM000664.2:g.178530276G>T GRCh38
NC_000002.11:g.179395003G>T , CM000664.1:g.179395003G>T GRCh37
NC_000002.10:g.179103249G>T NCBI36
NG_011618.3:g.305527C>A , LRG_391:g.305527C>A
NG_051363.1:g.12450G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98635C>A (TTN) ENSP00000343764.6:p.Pro32879Thr
ENST00000342175.11:c.79720C>A (TTN) ENSP00000340554.6:p.Pro26574Thr
ENST00000359218.10:c.79519C>A (TTN) ENSP00000352154.5:p.Pro26507Thr
ENST00000342175.10:c.79720C>A (TTN) ENSP00000340554.6:p.Pro26574Thr
ENST00000342992.10:c.98635C>A (TTN) ENSP00000343764.6:p.Pro32879Thr
ENST00000359218.9:c.79519C>A (TTN) ENSP00000352154.5:p.Pro26507Thr
ENST00000460472.6:c.79144C>A (TTN) ENSP00000434586.1:p.Pro26382Thr
ENST00000589042.5:c.106339C>A (TTN) MANE Select ENSP00000467141.1:p.Pro35447Thr
ENST00000591111.5:c.101416C>A (TTN) ENSP00000465570.1:p.Pro33806Thr
ENST00000615779.4:c.101416C>A (TTN) ENSP00000483597.1:p.Pro33806Thr
NM_001256850.1:c.101416C>A (TTN) NP_001243779.1:p.Pro33806Thr
NM_001267550.2:c.106339C>A (TTN) MANE Select NP_001254479.2:p.Pro35447Thr
NM_003319.4:c.79144C>A (TTN) NP_003310.4:p.Pro26382Thr
NM_133378.4:c.98635C>A (TTN) NP_596869.4:p.Pro32879Thr
NM_133432.3:c.79519C>A (TTN) NP_597676.3:p.Pro26507Thr
NM_133437.4:c.79720C>A (TTN) NP_597681.4:p.Pro26574Thr
NR_038271.1:n.446+6640G>T (TTN-AS1)
NR_038272.1:n.220-5456G>T (TTN-AS1)
XM_011511729.1:c.105436C>A (TTN) XP_011510031.1:p.Pro35146Thr
XM_011511730.1:c.79330C>A (TTN) XP_011510032.1:p.Pro26444Thr
XM_011511731.1:c.79189C>A (TTN) XP_011510033.1:p.Pro26397Thr
XM_017004819.1:c.105232C>A (TTN) XP_016860308.1:p.Pro35078Thr
XM_017004820.1:c.100630C>A (TTN) XP_016860309.1:p.Pro33544Thr
XM_017004821.1:c.100627C>A (TTN) XP_016860310.1:p.Pro33543Thr
XM_017004822.1:c.97669C>A (TTN) XP_016860311.1:p.Pro32557Thr
XM_017004823.1:c.79285C>A (TTN) XP_016860312.1:p.Pro26429Thr
XM_024453094.1:c.100780C>A (TTN) XP_024308862.1:p.Pro33594Thr
XM_024453095.1:c.100777C>A (TTN) XP_024308863.1:p.Pro33593Thr
XM_024453096.1:c.100210C>A (TTN) XP_024308864.1:p.Pro33404Thr
XM_024453097.1:c.97552C>A (TTN) XP_024308865.1:p.Pro32518Thr
XM_024453098.1:c.97471C>A (TTN) XP_024308866.1:p.Pro32491Thr
XM_024453099.1:c.79234C>A (TTN) XP_024308867.1:p.Pro26412Thr
XM_024453100.1:c.69088C>A (TTN) XP_024308868.1:p.Pro23030Thr