Canonical Allele Identifier: CA349405450

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530080C>A , CM000664.2:g.178530080C>A GRCh38
NC_000002.11:g.179394807C>A , CM000664.1:g.179394807C>A GRCh37
NC_000002.10:g.179103053C>A NCBI36
NG_011618.3:g.305723G>T , LRG_391:g.305723G>T
NG_051363.1:g.12254C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98707G>T (TTN) ENSP00000343764.6:p.Asp32903Tyr
ENST00000342175.11:c.79792G>T (TTN) ENSP00000340554.6:p.Asp26598Tyr
ENST00000359218.10:c.79591G>T (TTN) ENSP00000352154.5:p.Asp26531Tyr
ENST00000342175.10:c.79792G>T (TTN) ENSP00000340554.6:p.Asp26598Tyr
ENST00000342992.10:c.98707G>T (TTN) ENSP00000343764.6:p.Asp32903Tyr
ENST00000359218.9:c.79591G>T (TTN) ENSP00000352154.5:p.Asp26531Tyr
ENST00000460472.6:c.79216G>T (TTN) ENSP00000434586.1:p.Asp26406Tyr
ENST00000589042.5:c.106411G>T (TTN) MANE Select ENSP00000467141.1:p.Asp35471Tyr
ENST00000591111.5:c.101488G>T (TTN) ENSP00000465570.1:p.Asp33830Tyr
ENST00000615779.4:c.101488G>T (TTN) ENSP00000483597.1:p.Asp33830Tyr
NM_001256850.1:c.101488G>T (TTN) NP_001243779.1:p.Asp33830Tyr
NM_001267550.2:c.106411G>T (TTN) MANE Select NP_001254479.2:p.Asp35471Tyr
NM_003319.4:c.79216G>T (TTN) NP_003310.4:p.Asp26406Tyr
NM_133378.4:c.98707G>T (TTN) NP_596869.4:p.Asp32903Tyr
NM_133432.3:c.79591G>T (TTN) NP_597676.3:p.Asp26531Tyr
NM_133437.4:c.79792G>T (TTN) NP_597681.4:p.Asp26598Tyr
NR_038271.1:n.446+6444C>A (TTN-AS1)
NR_038272.1:n.220-5652C>A (TTN-AS1)
XM_011511729.1:c.105508G>T (TTN) XP_011510031.1:p.Asp35170Tyr
XM_011511730.1:c.79402G>T (TTN) XP_011510032.1:p.Asp26468Tyr
XM_011511731.1:c.79261G>T (TTN) XP_011510033.1:p.Asp26421Tyr
XM_017004819.1:c.105304G>T (TTN) XP_016860308.1:p.Asp35102Tyr
XM_017004820.1:c.100702G>T (TTN) XP_016860309.1:p.Asp33568Tyr
XM_017004821.1:c.100699G>T (TTN) XP_016860310.1:p.Asp33567Tyr
XM_017004822.1:c.97741G>T (TTN) XP_016860311.1:p.Asp32581Tyr
XM_017004823.1:c.79357G>T (TTN) XP_016860312.1:p.Asp26453Tyr
XM_024453094.1:c.100852G>T (TTN) XP_024308862.1:p.Asp33618Tyr
XM_024453095.1:c.100849G>T (TTN) XP_024308863.1:p.Asp33617Tyr
XM_024453096.1:c.100282G>T (TTN) XP_024308864.1:p.Asp33428Tyr
XM_024453097.1:c.97624G>T (TTN) XP_024308865.1:p.Asp32542Tyr
XM_024453098.1:c.97543G>T (TTN) XP_024308866.1:p.Asp32515Tyr
XM_024453099.1:c.79306G>T (TTN) XP_024308867.1:p.Asp26436Tyr
XM_024453100.1:c.69160G>T (TTN) XP_024308868.1:p.Asp23054Tyr