Canonical Allele Identifier: CA349411431

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532068C>A , CM000664.2:g.178532068C>A GRCh38
NC_000002.11:g.179396795C>A , CM000664.1:g.179396795C>A GRCh37
NC_000002.10:g.179105041C>A NCBI36
NG_011618.3:g.303735G>T , LRG_391:g.303735G>T
NG_051363.1:g.14242C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96843G>T (TTN) ENSP00000343764.6:p.Glu32281Asp
ENST00000342175.11:c.77928G>T (TTN) ENSP00000340554.6:p.Glu25976Asp
ENST00000359218.10:c.77727G>T (TTN) ENSP00000352154.5:p.Glu25909Asp
ENST00000342175.10:c.77928G>T (TTN) ENSP00000340554.6:p.Glu25976Asp
ENST00000342992.10:c.96843G>T (TTN) ENSP00000343764.6:p.Glu32281Asp
ENST00000359218.9:c.77727G>T (TTN) ENSP00000352154.5:p.Glu25909Asp
ENST00000460472.6:c.77352G>T (TTN) ENSP00000434586.1:p.Glu25784Asp
ENST00000589042.5:c.104547G>T (TTN) MANE Select ENSP00000467141.1:p.Glu34849Asp
ENST00000591111.5:c.99624G>T (TTN) ENSP00000465570.1:p.Glu33208Asp
ENST00000615779.4:c.99624G>T (TTN) ENSP00000483597.1:p.Glu33208Asp
NM_001256850.1:c.99624G>T (TTN) NP_001243779.1:p.Glu33208Asp
NM_001267550.2:c.104547G>T (TTN) MANE Select NP_001254479.2:p.Glu34849Asp
NM_003319.4:c.77352G>T (TTN) NP_003310.4:p.Glu25784Asp
NM_133378.4:c.96843G>T (TTN) NP_596869.4:p.Glu32281Asp
NM_133432.3:c.77727G>T (TTN) NP_597676.3:p.Glu25909Asp
NM_133437.4:c.77928G>T (TTN) NP_597681.4:p.Glu25976Asp
NR_038271.1:n.446+8432C>A (TTN-AS1)
NR_038272.1:n.220-3664C>A (TTN-AS1)
XM_011511729.1:c.103644G>T (TTN) XP_011510031.1:p.Glu34548Asp
XM_011511730.1:c.77538G>T (TTN) XP_011510032.1:p.Glu25846Asp
XM_011511731.1:c.77397G>T (TTN) XP_011510033.1:p.Glu25799Asp
XM_017004819.1:c.103440G>T (TTN) XP_016860308.1:p.Glu34480Asp
XM_017004820.1:c.98838G>T (TTN) XP_016860309.1:p.Glu32946Asp
XM_017004821.1:c.98835G>T (TTN) XP_016860310.1:p.Glu32945Asp
XM_017004822.1:c.95877G>T (TTN) XP_016860311.1:p.Glu31959Asp
XM_017004823.1:c.77493G>T (TTN) XP_016860312.1:p.Glu25831Asp
XM_024453094.1:c.98988G>T (TTN) XP_024308862.1:p.Glu32996Asp
XM_024453095.1:c.98985G>T (TTN) XP_024308863.1:p.Glu32995Asp
XM_024453096.1:c.98418G>T (TTN) XP_024308864.1:p.Glu32806Asp
XM_024453097.1:c.95760G>T (TTN) XP_024308865.1:p.Glu31920Asp
XM_024453098.1:c.95679G>T (TTN) XP_024308866.1:p.Glu31893Asp
XM_024453099.1:c.77442G>T (TTN) XP_024308867.1:p.Glu25814Asp
XM_024453100.1:c.67296G>T (TTN) XP_024308868.1:p.Glu22432Asp