Canonical Allele Identifier: CA349435977

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584575A>C , CM000664.2:g.178584575A>C GRCh38
NC_000002.11:g.179449302A>C , CM000664.1:g.179449302A>C GRCh37
NC_000002.10:g.179157548A>C NCBI36
NG_011618.3:g.251228T>G , LRG_391:g.251228T>G
NG_051363.1:g.66749A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57272T>G (TTN) ENSP00000343764.6:p.Val19091Gly
ENST00000342175.11:c.38357T>G (TTN) ENSP00000340554.6:p.Val12786Gly
ENST00000359218.10:c.38156T>G (TTN) ENSP00000352154.5:p.Val12719Gly
ENST00000342175.10:c.38357T>G (TTN) ENSP00000340554.6:p.Val12786Gly
ENST00000342992.10:c.57272T>G (TTN) ENSP00000343764.6:p.Val19091Gly
ENST00000359218.9:c.38156T>G (TTN) ENSP00000352154.5:p.Val12719Gly
ENST00000460472.6:c.37781T>G (TTN) ENSP00000434586.1:p.Val12594Gly
ENST00000589042.5:c.64976T>G (TTN) MANE Select ENSP00000467141.1:p.Val21659Gly
ENST00000591111.5:c.60053T>G (TTN) ENSP00000465570.1:p.Val20018Gly
ENST00000615779.4:c.60053T>G (TTN) ENSP00000483597.1:p.Val20018Gly
NM_001256850.1:c.60053T>G (TTN) NP_001243779.1:p.Val20018Gly
NM_001267550.2:c.64976T>G (TTN) MANE Select NP_001254479.2:p.Val21659Gly
NM_003319.4:c.37781T>G (TTN) NP_003310.4:p.Val12594Gly
NM_133378.4:c.57272T>G (TTN) NP_596869.4:p.Val19091Gly
NM_133432.3:c.38156T>G (TTN) NP_597676.3:p.Val12719Gly
NM_133437.4:c.38357T>G (TTN) NP_597681.4:p.Val12786Gly
NR_038271.1:n.597-13021A>C (TTN-AS1)
NR_038272.1:n.2770A>C (TTN-AS1)
XM_011511729.1:c.64073T>G (TTN) XP_011510031.1:p.Val21358Gly
XM_011511730.1:c.37967T>G (TTN) XP_011510032.1:p.Val12656Gly
XM_011511731.1:c.37826T>G (TTN) XP_011510033.1:p.Val12609Gly
XM_017004819.1:c.63869T>G (TTN) XP_016860308.1:p.Val21290Gly
XM_017004820.1:c.59267T>G (TTN) XP_016860309.1:p.Val19756Gly
XM_017004821.1:c.59264T>G (TTN) XP_016860310.1:p.Val19755Gly
XM_017004822.1:c.56306T>G (TTN) XP_016860311.1:p.Val18769Gly
XM_017004823.1:c.37922T>G (TTN) XP_016860312.1:p.Val12641Gly
XM_024453094.1:c.59417T>G (TTN) XP_024308862.1:p.Val19806Gly
XM_024453095.1:c.59414T>G (TTN) XP_024308863.1:p.Val19805Gly
XM_024453096.1:c.58847T>G (TTN) XP_024308864.1:p.Val19616Gly
XM_024453097.1:c.56189T>G (TTN) XP_024308865.1:p.Val18730Gly
XM_024453098.1:c.56108T>G (TTN) XP_024308866.1:p.Val18703Gly
XM_024453099.1:c.37871T>G (TTN) XP_024308867.1:p.Val12624Gly
XM_024453100.1:c.27725T>G (TTN) XP_024308868.1:p.Val9242Gly