Canonical Allele Identifier: CA349411439

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532072A>C , CM000664.2:g.178532072A>C GRCh38
NC_000002.11:g.179396799A>C , CM000664.1:g.179396799A>C GRCh37
NC_000002.10:g.179105045A>C NCBI36
NG_011618.3:g.303731T>G , LRG_391:g.303731T>G
NG_051363.1:g.14246A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96839T>G (TTN) ENSP00000343764.6:p.Ile32280Ser
ENST00000342175.11:c.77924T>G (TTN) ENSP00000340554.6:p.Ile25975Ser
ENST00000359218.10:c.77723T>G (TTN) ENSP00000352154.5:p.Ile25908Ser
ENST00000342175.10:c.77924T>G (TTN) ENSP00000340554.6:p.Ile25975Ser
ENST00000342992.10:c.96839T>G (TTN) ENSP00000343764.6:p.Ile32280Ser
ENST00000359218.9:c.77723T>G (TTN) ENSP00000352154.5:p.Ile25908Ser
ENST00000460472.6:c.77348T>G (TTN) ENSP00000434586.1:p.Ile25783Ser
ENST00000589042.5:c.104543T>G (TTN) MANE Select ENSP00000467141.1:p.Ile34848Ser
ENST00000591111.5:c.99620T>G (TTN) ENSP00000465570.1:p.Ile33207Ser
ENST00000615779.4:c.99620T>G (TTN) ENSP00000483597.1:p.Ile33207Ser
NM_001256850.1:c.99620T>G (TTN) NP_001243779.1:p.Ile33207Ser
NM_001267550.2:c.104543T>G (TTN) MANE Select NP_001254479.2:p.Ile34848Ser
NM_003319.4:c.77348T>G (TTN) NP_003310.4:p.Ile25783Ser
NM_133378.4:c.96839T>G (TTN) NP_596869.4:p.Ile32280Ser
NM_133432.3:c.77723T>G (TTN) NP_597676.3:p.Ile25908Ser
NM_133437.4:c.77924T>G (TTN) NP_597681.4:p.Ile25975Ser
NR_038271.1:n.446+8436A>C (TTN-AS1)
NR_038272.1:n.220-3660A>C (TTN-AS1)
XM_011511729.1:c.103640T>G (TTN) XP_011510031.1:p.Ile34547Ser
XM_011511730.1:c.77534T>G (TTN) XP_011510032.1:p.Ile25845Ser
XM_011511731.1:c.77393T>G (TTN) XP_011510033.1:p.Ile25798Ser
XM_017004819.1:c.103436T>G (TTN) XP_016860308.1:p.Ile34479Ser
XM_017004820.1:c.98834T>G (TTN) XP_016860309.1:p.Ile32945Ser
XM_017004821.1:c.98831T>G (TTN) XP_016860310.1:p.Ile32944Ser
XM_017004822.1:c.95873T>G (TTN) XP_016860311.1:p.Ile31958Ser
XM_017004823.1:c.77489T>G (TTN) XP_016860312.1:p.Ile25830Ser
XM_024453094.1:c.98984T>G (TTN) XP_024308862.1:p.Ile32995Ser
XM_024453095.1:c.98981T>G (TTN) XP_024308863.1:p.Ile32994Ser
XM_024453096.1:c.98414T>G (TTN) XP_024308864.1:p.Ile32805Ser
XM_024453097.1:c.95756T>G (TTN) XP_024308865.1:p.Ile31919Ser
XM_024453098.1:c.95675T>G (TTN) XP_024308866.1:p.Ile31892Ser
XM_024453099.1:c.77438T>G (TTN) XP_024308867.1:p.Ile25813Ser
XM_024453100.1:c.67292T>G (TTN) XP_024308868.1:p.Ile22431Ser