Canonical Allele Identifier: CA349610698

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568737C>T , CM000664.2:g.178568737C>T GRCh38
NC_000002.11:g.179433464C>T , CM000664.1:g.179433464C>T GRCh37
NC_000002.10:g.179141710C>T NCBI36
NG_011618.3:g.267066G>A , LRG_391:g.267066G>A
NG_051363.1:g.50911C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69691G>A (TTN) ENSP00000343764.6:p.Asp23231Asn
ENST00000342175.11:c.50776G>A (TTN) ENSP00000340554.6:p.Asp16926Asn
ENST00000359218.10:c.50575G>A (TTN) ENSP00000352154.5:p.Asp16859Asn
ENST00000342175.10:c.50776G>A (TTN) ENSP00000340554.6:p.Asp16926Asn
ENST00000342992.10:c.69691G>A (TTN) ENSP00000343764.6:p.Asp23231Asn
ENST00000359218.9:c.50575G>A (TTN) ENSP00000352154.5:p.Asp16859Asn
ENST00000460472.6:c.50200G>A (TTN) ENSP00000434586.1:p.Asp16734Asn
ENST00000589042.5:c.77395G>A (TTN) MANE Select ENSP00000467141.1:p.Asp25799Asn
ENST00000591111.5:c.72472G>A (TTN) ENSP00000465570.1:p.Asp24158Asn
ENST00000615779.4:c.72472G>A (TTN) ENSP00000483597.1:p.Asp24158Asn
NM_001256850.1:c.72472G>A (TTN) NP_001243779.1:p.Asp24158Asn
NM_001267550.2:c.77395G>A (TTN) MANE Select NP_001254479.2:p.Asp25799Asn
NM_003319.4:c.50200G>A (TTN) NP_003310.4:p.Asp16734Asn
NM_133378.4:c.69691G>A (TTN) NP_596869.4:p.Asp23231Asn
NM_133432.3:c.50575G>A (TTN) NP_597676.3:p.Asp16859Asn
NM_133437.4:c.50776G>A (TTN) NP_597681.4:p.Asp16926Asn
NR_038271.1:n.447-2563C>T (TTN-AS1)
NR_038272.1:n.2044-13835C>T (TTN-AS1)
XM_011511729.1:c.76492G>A (TTN) XP_011510031.1:p.Asp25498Asn
XM_011511730.1:c.50386G>A (TTN) XP_011510032.1:p.Asp16796Asn
XM_011511731.1:c.50245G>A (TTN) XP_011510033.1:p.Asp16749Asn
XM_017004819.1:c.76288G>A (TTN) XP_016860308.1:p.Asp25430Asn
XM_017004820.1:c.71686G>A (TTN) XP_016860309.1:p.Asp23896Asn
XM_017004821.1:c.71683G>A (TTN) XP_016860310.1:p.Asp23895Asn
XM_017004822.1:c.68725G>A (TTN) XP_016860311.1:p.Asp22909Asn
XM_017004823.1:c.50341G>A (TTN) XP_016860312.1:p.Asp16781Asn
XM_024453094.1:c.71836G>A (TTN) XP_024308862.1:p.Asp23946Asn
XM_024453095.1:c.71833G>A (TTN) XP_024308863.1:p.Asp23945Asn
XM_024453096.1:c.71266G>A (TTN) XP_024308864.1:p.Asp23756Asn
XM_024453097.1:c.68608G>A (TTN) XP_024308865.1:p.Asp22870Asn
XM_024453098.1:c.68527G>A (TTN) XP_024308866.1:p.Asp22843Asn
XM_024453099.1:c.50290G>A (TTN) XP_024308867.1:p.Asp16764Asn
XM_024453100.1:c.40144G>A (TTN) XP_024308868.1:p.Asp13382Asn