Canonical Allele Identifier: CA349405642

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530116C>A , CM000664.2:g.178530116C>A GRCh38
NC_000002.11:g.179394843C>A , CM000664.1:g.179394843C>A GRCh37
NC_000002.10:g.179103089C>A NCBI36
NG_011618.3:g.305687G>T , LRG_391:g.305687G>T
NG_051363.1:g.12290C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98671G>T (TTN) ENSP00000343764.6:p.Ala32891Ser
ENST00000342175.11:c.79756G>T (TTN) ENSP00000340554.6:p.Ala26586Ser
ENST00000359218.10:c.79555G>T (TTN) ENSP00000352154.5:p.Ala26519Ser
ENST00000342175.10:c.79756G>T (TTN) ENSP00000340554.6:p.Ala26586Ser
ENST00000342992.10:c.98671G>T (TTN) ENSP00000343764.6:p.Ala32891Ser
ENST00000359218.9:c.79555G>T (TTN) ENSP00000352154.5:p.Ala26519Ser
ENST00000460472.6:c.79180G>T (TTN) ENSP00000434586.1:p.Ala26394Ser
ENST00000589042.5:c.106375G>T (TTN) MANE Select ENSP00000467141.1:p.Ala35459Ser
ENST00000591111.5:c.101452G>T (TTN) ENSP00000465570.1:p.Ala33818Ser
ENST00000615779.4:c.101452G>T (TTN) ENSP00000483597.1:p.Ala33818Ser
NM_001256850.1:c.101452G>T (TTN) NP_001243779.1:p.Ala33818Ser
NM_001267550.2:c.106375G>T (TTN) MANE Select NP_001254479.2:p.Ala35459Ser
NM_003319.4:c.79180G>T (TTN) NP_003310.4:p.Ala26394Ser
NM_133378.4:c.98671G>T (TTN) NP_596869.4:p.Ala32891Ser
NM_133432.3:c.79555G>T (TTN) NP_597676.3:p.Ala26519Ser
NM_133437.4:c.79756G>T (TTN) NP_597681.4:p.Ala26586Ser
NR_038271.1:n.446+6480C>A (TTN-AS1)
NR_038272.1:n.220-5616C>A (TTN-AS1)
XM_011511729.1:c.105472G>T (TTN) XP_011510031.1:p.Ala35158Ser
XM_011511730.1:c.79366G>T (TTN) XP_011510032.1:p.Ala26456Ser
XM_011511731.1:c.79225G>T (TTN) XP_011510033.1:p.Ala26409Ser
XM_017004819.1:c.105268G>T (TTN) XP_016860308.1:p.Ala35090Ser
XM_017004820.1:c.100666G>T (TTN) XP_016860309.1:p.Ala33556Ser
XM_017004821.1:c.100663G>T (TTN) XP_016860310.1:p.Ala33555Ser
XM_017004822.1:c.97705G>T (TTN) XP_016860311.1:p.Ala32569Ser
XM_017004823.1:c.79321G>T (TTN) XP_016860312.1:p.Ala26441Ser
XM_024453094.1:c.100816G>T (TTN) XP_024308862.1:p.Ala33606Ser
XM_024453095.1:c.100813G>T (TTN) XP_024308863.1:p.Ala33605Ser
XM_024453096.1:c.100246G>T (TTN) XP_024308864.1:p.Ala33416Ser
XM_024453097.1:c.97588G>T (TTN) XP_024308865.1:p.Ala32530Ser
XM_024453098.1:c.97507G>T (TTN) XP_024308866.1:p.Ala32503Ser
XM_024453099.1:c.79270G>T (TTN) XP_024308867.1:p.Ala26424Ser
XM_024453100.1:c.69124G>T (TTN) XP_024308868.1:p.Ala23042Ser