Canonical Allele Identifier: CA349435962

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584570T>G , CM000664.2:g.178584570T>G GRCh38
NC_000002.11:g.179449297T>G , CM000664.1:g.179449297T>G GRCh37
NC_000002.10:g.179157543T>G NCBI36
NG_011618.3:g.251233A>C , LRG_391:g.251233A>C
NG_051363.1:g.66744T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57277A>C (TTN) ENSP00000343764.6:p.Ser19093Arg
ENST00000342175.11:c.38362A>C (TTN) ENSP00000340554.6:p.Ser12788Arg
ENST00000359218.10:c.38161A>C (TTN) ENSP00000352154.5:p.Ser12721Arg
ENST00000342175.10:c.38362A>C (TTN) ENSP00000340554.6:p.Ser12788Arg
ENST00000342992.10:c.57277A>C (TTN) ENSP00000343764.6:p.Ser19093Arg
ENST00000359218.9:c.38161A>C (TTN) ENSP00000352154.5:p.Ser12721Arg
ENST00000460472.6:c.37786A>C (TTN) ENSP00000434586.1:p.Ser12596Arg
ENST00000589042.5:c.64981A>C (TTN) MANE Select ENSP00000467141.1:p.Ser21661Arg
ENST00000591111.5:c.60058A>C (TTN) ENSP00000465570.1:p.Ser20020Arg
ENST00000615779.4:c.60058A>C (TTN) ENSP00000483597.1:p.Ser20020Arg
NM_001256850.1:c.60058A>C (TTN) NP_001243779.1:p.Ser20020Arg
NM_001267550.2:c.64981A>C (TTN) MANE Select NP_001254479.2:p.Ser21661Arg
NM_003319.4:c.37786A>C (TTN) NP_003310.4:p.Ser12596Arg
NM_133378.4:c.57277A>C (TTN) NP_596869.4:p.Ser19093Arg
NM_133432.3:c.38161A>C (TTN) NP_597676.3:p.Ser12721Arg
NM_133437.4:c.38362A>C (TTN) NP_597681.4:p.Ser12788Arg
NR_038271.1:n.597-13026T>G (TTN-AS1)
NR_038272.1:n.2768-3T>G (TTN-AS1)
XM_011511729.1:c.64078A>C (TTN) XP_011510031.1:p.Ser21360Arg
XM_011511730.1:c.37972A>C (TTN) XP_011510032.1:p.Ser12658Arg
XM_011511731.1:c.37831A>C (TTN) XP_011510033.1:p.Ser12611Arg
XM_017004819.1:c.63874A>C (TTN) XP_016860308.1:p.Ser21292Arg
XM_017004820.1:c.59272A>C (TTN) XP_016860309.1:p.Ser19758Arg
XM_017004821.1:c.59269A>C (TTN) XP_016860310.1:p.Ser19757Arg
XM_017004822.1:c.56311A>C (TTN) XP_016860311.1:p.Ser18771Arg
XM_017004823.1:c.37927A>C (TTN) XP_016860312.1:p.Ser12643Arg
XM_024453094.1:c.59422A>C (TTN) XP_024308862.1:p.Ser19808Arg
XM_024453095.1:c.59419A>C (TTN) XP_024308863.1:p.Ser19807Arg
XM_024453096.1:c.58852A>C (TTN) XP_024308864.1:p.Ser19618Arg
XM_024453097.1:c.56194A>C (TTN) XP_024308865.1:p.Ser18732Arg
XM_024453098.1:c.56113A>C (TTN) XP_024308866.1:p.Ser18705Arg
XM_024453099.1:c.37876A>C (TTN) XP_024308867.1:p.Ser12626Arg
XM_024453100.1:c.27730A>C (TTN) XP_024308868.1:p.Ser9244Arg