Canonical Allele Identifier: CA349482231

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548056A>C , CM000664.2:g.178548056A>C GRCh38
NC_000002.11:g.179412783A>C , CM000664.1:g.179412783A>C GRCh37
NC_000002.10:g.179121029A>C NCBI36
NG_011618.3:g.287747T>G , LRG_391:g.287747T>G
NG_051363.1:g.30230A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.85866T>G (TTN) ENSP00000343764.6:p.Asn28622Lys
ENST00000342175.11:c.66951T>G (TTN) ENSP00000340554.6:p.Asn22317Lys
ENST00000359218.10:c.66750T>G (TTN) ENSP00000352154.5:p.Asn22250Lys
ENST00000342175.10:c.66951T>G (TTN) ENSP00000340554.6:p.Asn22317Lys
ENST00000342992.10:c.85866T>G (TTN) ENSP00000343764.6:p.Asn28622Lys
ENST00000359218.9:c.66750T>G (TTN) ENSP00000352154.5:p.Asn22250Lys
ENST00000460472.6:c.66375T>G (TTN) ENSP00000434586.1:p.Asn22125Lys
ENST00000589042.5:c.93570T>G (TTN) MANE Select ENSP00000467141.1:p.Asn31190Lys
ENST00000591111.5:c.88647T>G (TTN) ENSP00000465570.1:p.Asn29549Lys
ENST00000615779.4:c.88647T>G (TTN) ENSP00000483597.1:p.Asn29549Lys
NM_001256850.1:c.88647T>G (TTN) NP_001243779.1:p.Asn29549Lys
NM_001267550.2:c.93570T>G (TTN) MANE Select NP_001254479.2:p.Asn31190Lys
NM_003319.4:c.66375T>G (TTN) NP_003310.4:p.Asn22125Lys
NM_133378.4:c.85866T>G (TTN) NP_596869.4:p.Asn28622Lys
NM_133432.3:c.66750T>G (TTN) NP_597676.3:p.Asn22250Lys
NM_133437.4:c.66951T>G (TTN) NP_597681.4:p.Asn22317Lys
NR_038271.1:n.447-23244A>C (TTN-AS1)
NR_038272.1:n.2043+5695A>C (TTN-AS1)
XM_011511729.1:c.92667T>G (TTN) XP_011510031.1:p.Asn30889Lys
XM_011511730.1:c.66561T>G (TTN) XP_011510032.1:p.Asn22187Lys
XM_011511731.1:c.66420T>G (TTN) XP_011510033.1:p.Asn22140Lys
XM_017004819.1:c.92463T>G (TTN) XP_016860308.1:p.Asn30821Lys
XM_017004820.1:c.87861T>G (TTN) XP_016860309.1:p.Asn29287Lys
XM_017004821.1:c.87858T>G (TTN) XP_016860310.1:p.Asn29286Lys
XM_017004822.1:c.84900T>G (TTN) XP_016860311.1:p.Asn28300Lys
XM_017004823.1:c.66516T>G (TTN) XP_016860312.1:p.Asn22172Lys
XM_024453094.1:c.88011T>G (TTN) XP_024308862.1:p.Asn29337Lys
XM_024453095.1:c.88008T>G (TTN) XP_024308863.1:p.Asn29336Lys
XM_024453096.1:c.87441T>G (TTN) XP_024308864.1:p.Asn29147Lys
XM_024453097.1:c.84783T>G (TTN) XP_024308865.1:p.Asn28261Lys
XM_024453098.1:c.84702T>G (TTN) XP_024308866.1:p.Asn28234Lys
XM_024453099.1:c.66465T>G (TTN) XP_024308867.1:p.Asn22155Lys
XM_024453100.1:c.56319T>G (TTN) XP_024308868.1:p.Asn18773Lys