Canonical Allele Identifier: CA349635738
Gene: TTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178621649C>G , CM000664.2:g.178621649C>G GRCh38
NC_000002.11:g.179486376C>G , CM000664.1:g.179486376C>G GRCh37
NC_000002.10:g.179194621C>G NCBI36
NG_011618.3:g.214154G>C , LRG_391:g.214154G>C
NG_051363.1:g.103823C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.37471G>C ENSP00000343764.6:p.Ala12491Pro
ENST00000342175.11:c.18556G>C ENSP00000340554.6:p.Ala6186Pro
ENST00000359218.10:c.18355G>C ENSP00000352154.5:p.Ala6119Pro
ENST00000342175.10:c.18556G>C ENSP00000340554.6:p.Ala6186Pro
ENST00000342992.10:c.37471G>C ENSP00000343764.6:p.Ala12491Pro
ENST00000359218.9:c.18355G>C ENSP00000352154.5:p.Ala6119Pro
ENST00000460472.6:c.17980G>C ENSP00000434586.1:p.Ala5994Pro
ENST00000589042.5:c.45175G>C MANE Select ENSP00000467141.1:p.Ala15059Pro
ENST00000591111.5:c.40252G>C ENSP00000465570.1:p.Ala13418Pro
ENST00000615779.4:c.40252G>C ENSP00000483597.1:p.Ala13418Pro
NM_001256850.1:c.40252G>C NP_001243779.1:p.Ala13418Pro
NM_001267550.2:c.45175G>C MANE Select NP_001254479.2:p.Ala15059Pro
NM_003319.4:c.17980G>C NP_003310.4:p.Ala5994Pro
NM_133378.4:c.37471G>C NP_596869.4:p.Ala12491Pro
NM_133432.3:c.18355G>C NP_597676.3:p.Ala6119Pro
NM_133437.4:c.18556G>C NP_597681.4:p.Ala6186Pro
XM_011511729.1:c.44272G>C XP_011510031.1:p.Ala14758Pro
XM_011511730.1:c.18166G>C XP_011510032.1:p.Ala6056Pro
XM_011511731.1:c.18025G>C XP_011510033.1:p.Ala6009Pro
XM_017004819.1:c.44068G>C XP_016860308.1:p.Ala14690Pro
XM_017004820.1:c.39466G>C XP_016860309.1:p.Ala13156Pro
XM_017004821.1:c.39463G>C XP_016860310.1:p.Ala13155Pro
XM_017004822.1:c.36505G>C XP_016860311.1:p.Ala12169Pro
XM_017004823.1:c.18121G>C XP_016860312.1:p.Ala6041Pro
XM_024453094.1:c.39616G>C XP_024308862.1:p.Ala13206Pro
XM_024453095.1:c.39613G>C XP_024308863.1:p.Ala13205Pro
XM_024453096.1:c.39046G>C XP_024308864.1:p.Ala13016Pro
XM_024453097.1:c.36388G>C XP_024308865.1:p.Ala12130Pro
XM_024453098.1:c.36307G>C XP_024308866.1:p.Ala12103Pro
XM_024453099.1:c.18070G>C XP_024308867.1:p.Ala6024Pro
XM_024453100.1:c.7924G>C XP_024308868.1:p.Ala2642Pro