Canonical Allele Identifier: CA349435958

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57277A>T (TTN) ENSP00000343764.6:p.Ser19093Cys
ENST00000342175.11:c.38362A>T (TTN) ENSP00000340554.6:p.Ser12788Cys
ENST00000359218.10:c.38161A>T (TTN) ENSP00000352154.5:p.Ser12721Cys
ENST00000342175.10:c.38362A>T (TTN) ENSP00000340554.6:p.Ser12788Cys
ENST00000342992.10:c.57277A>T (TTN) ENSP00000343764.6:p.Ser19093Cys
ENST00000359218.9:c.38161A>T (TTN) ENSP00000352154.5:p.Ser12721Cys
ENST00000460472.6:c.37786A>T (TTN) ENSP00000434586.1:p.Ser12596Cys
ENST00000589042.5:c.64981A>T (TTN) MANE Select ENSP00000467141.1:p.Ser21661Cys
ENST00000591111.5:c.60058A>T (TTN) ENSP00000465570.1:p.Ser20020Cys
ENST00000615779.4:c.60058A>T (TTN) ENSP00000483597.1:p.Ser20020Cys
NM_001256850.1:c.60058A>T (TTN) NP_001243779.1:p.Ser20020Cys
NM_001267550.2:c.64981A>T (TTN) MANE Select NP_001254479.2:p.Ser21661Cys
NM_003319.4:c.37786A>T (TTN) NP_003310.4:p.Ser12596Cys
NM_133378.4:c.57277A>T (TTN) NP_596869.4:p.Ser19093Cys
NM_133432.3:c.38161A>T (TTN) NP_597676.3:p.Ser12721Cys
NM_133437.4:c.38362A>T (TTN) NP_597681.4:p.Ser12788Cys
NR_038271.1:n.597-13026T>A (TTN-AS1)
NR_038272.1:n.2768-3T>A (TTN-AS1)
XM_011511729.1:c.64078A>T (TTN) XP_011510031.1:p.Ser21360Cys
XM_011511730.1:c.37972A>T (TTN) XP_011510032.1:p.Ser12658Cys
XM_011511731.1:c.37831A>T (TTN) XP_011510033.1:p.Ser12611Cys
XM_017004819.1:c.63874A>T (TTN) XP_016860308.1:p.Ser21292Cys
XM_017004820.1:c.59272A>T (TTN) XP_016860309.1:p.Ser19758Cys
XM_017004821.1:c.59269A>T (TTN) XP_016860310.1:p.Ser19757Cys
XM_017004822.1:c.56311A>T (TTN) XP_016860311.1:p.Ser18771Cys
XM_017004823.1:c.37927A>T (TTN) XP_016860312.1:p.Ser12643Cys
XM_024453094.1:c.59422A>T (TTN) XP_024308862.1:p.Ser19808Cys
XM_024453095.1:c.59419A>T (TTN) XP_024308863.1:p.Ser19807Cys
XM_024453096.1:c.58852A>T (TTN) XP_024308864.1:p.Ser19618Cys
XM_024453097.1:c.56194A>T (TTN) XP_024308865.1:p.Ser18732Cys
XM_024453098.1:c.56113A>T (TTN) XP_024308866.1:p.Ser18705Cys
XM_024453099.1:c.37876A>T (TTN) XP_024308867.1:p.Ser12626Cys
XM_024453100.1:c.27730A>T (TTN) XP_024308868.1:p.Ser9244Cys