Canonical Allele Identifier: CA349435970

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584573G>A , CM000664.2:g.178584573G>A GRCh38
NC_000002.11:g.179449300G>A , CM000664.1:g.179449300G>A GRCh37
NC_000002.10:g.179157546G>A NCBI36
NG_011618.3:g.251230C>T , LRG_391:g.251230C>T
NG_051363.1:g.66747G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57274C>T (TTN) ENSP00000343764.6:p.Pro19092Ser
ENST00000342175.11:c.38359C>T (TTN) ENSP00000340554.6:p.Pro12787Ser
ENST00000359218.10:c.38158C>T (TTN) ENSP00000352154.5:p.Pro12720Ser
ENST00000342175.10:c.38359C>T (TTN) ENSP00000340554.6:p.Pro12787Ser
ENST00000342992.10:c.57274C>T (TTN) ENSP00000343764.6:p.Pro19092Ser
ENST00000359218.9:c.38158C>T (TTN) ENSP00000352154.5:p.Pro12720Ser
ENST00000460472.6:c.37783C>T (TTN) ENSP00000434586.1:p.Pro12595Ser
ENST00000589042.5:c.64978C>T (TTN) MANE Select ENSP00000467141.1:p.Pro21660Ser
ENST00000591111.5:c.60055C>T (TTN) ENSP00000465570.1:p.Pro20019Ser
ENST00000615779.4:c.60055C>T (TTN) ENSP00000483597.1:p.Pro20019Ser
NM_001256850.1:c.60055C>T (TTN) NP_001243779.1:p.Pro20019Ser
NM_001267550.2:c.64978C>T (TTN) MANE Select NP_001254479.2:p.Pro21660Ser
NM_003319.4:c.37783C>T (TTN) NP_003310.4:p.Pro12595Ser
NM_133378.4:c.57274C>T (TTN) NP_596869.4:p.Pro19092Ser
NM_133432.3:c.38158C>T (TTN) NP_597676.3:p.Pro12720Ser
NM_133437.4:c.38359C>T (TTN) NP_597681.4:p.Pro12787Ser
NR_038271.1:n.597-13023G>A (TTN-AS1)
NR_038272.1:n.2768G>A (TTN-AS1)
XM_011511729.1:c.64075C>T (TTN) XP_011510031.1:p.Pro21359Ser
XM_011511730.1:c.37969C>T (TTN) XP_011510032.1:p.Pro12657Ser
XM_011511731.1:c.37828C>T (TTN) XP_011510033.1:p.Pro12610Ser
XM_017004819.1:c.63871C>T (TTN) XP_016860308.1:p.Pro21291Ser
XM_017004820.1:c.59269C>T (TTN) XP_016860309.1:p.Pro19757Ser
XM_017004821.1:c.59266C>T (TTN) XP_016860310.1:p.Pro19756Ser
XM_017004822.1:c.56308C>T (TTN) XP_016860311.1:p.Pro18770Ser
XM_017004823.1:c.37924C>T (TTN) XP_016860312.1:p.Pro12642Ser
XM_024453094.1:c.59419C>T (TTN) XP_024308862.1:p.Pro19807Ser
XM_024453095.1:c.59416C>T (TTN) XP_024308863.1:p.Pro19806Ser
XM_024453096.1:c.58849C>T (TTN) XP_024308864.1:p.Pro19617Ser
XM_024453097.1:c.56191C>T (TTN) XP_024308865.1:p.Pro18731Ser
XM_024453098.1:c.56110C>T (TTN) XP_024308866.1:p.Pro18704Ser
XM_024453099.1:c.37873C>T (TTN) XP_024308867.1:p.Pro12625Ser
XM_024453100.1:c.27727C>T (TTN) XP_024308868.1:p.Pro9243Ser