Canonical Allele Identifier: CA349434873

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178540068C>T , CM000664.2:g.178540068C>T GRCh38
NC_000002.11:g.179404795C>T , CM000664.1:g.179404795C>T GRCh37
NC_000002.10:g.179113041C>T NCBI36
NG_011618.3:g.295735G>A , LRG_391:g.295735G>A
NG_051363.1:g.22242C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.90394G>A (TTN) ENSP00000343764.6:p.Glu30132Lys
ENST00000342175.11:c.71479G>A (TTN) ENSP00000340554.6:p.Glu23827Lys
ENST00000359218.10:c.71278G>A (TTN) ENSP00000352154.5:p.Glu23760Lys
ENST00000342175.10:c.71479G>A (TTN) ENSP00000340554.6:p.Glu23827Lys
ENST00000342992.10:c.90394G>A (TTN) ENSP00000343764.6:p.Glu30132Lys
ENST00000359218.9:c.71278G>A (TTN) ENSP00000352154.5:p.Glu23760Lys
ENST00000460472.6:c.70903G>A (TTN) ENSP00000434586.1:p.Glu23635Lys
ENST00000589042.5:c.98098G>A (TTN) MANE Select ENSP00000467141.1:p.Glu32700Lys
ENST00000591111.5:c.93175G>A (TTN) ENSP00000465570.1:p.Glu31059Lys
ENST00000615779.4:c.93175G>A (TTN) ENSP00000483597.1:p.Glu31059Lys
NM_001256850.1:c.93175G>A (TTN) NP_001243779.1:p.Glu31059Lys
NM_001267550.2:c.98098G>A (TTN) MANE Select NP_001254479.2:p.Glu32700Lys
NM_003319.4:c.70903G>A (TTN) NP_003310.4:p.Glu23635Lys
NM_133378.4:c.90394G>A (TTN) NP_596869.4:p.Glu30132Lys
NM_133432.3:c.71278G>A (TTN) NP_597676.3:p.Glu23760Lys
NM_133437.4:c.71479G>A (TTN) NP_597681.4:p.Glu23827Lys
NR_038271.1:n.446+16432C>T (TTN-AS1)
NR_038272.1:n.1841-39C>T (TTN-AS1)
XM_011511729.1:c.97195G>A (TTN) XP_011510031.1:p.Glu32399Lys
XM_011511730.1:c.71089G>A (TTN) XP_011510032.1:p.Glu23697Lys
XM_011511731.1:c.70948G>A (TTN) XP_011510033.1:p.Glu23650Lys
XM_017004819.1:c.96991G>A (TTN) XP_016860308.1:p.Glu32331Lys
XM_017004820.1:c.92389G>A (TTN) XP_016860309.1:p.Glu30797Lys
XM_017004821.1:c.92386G>A (TTN) XP_016860310.1:p.Glu30796Lys
XM_017004822.1:c.89428G>A (TTN) XP_016860311.1:p.Glu29810Lys
XM_017004823.1:c.71044G>A (TTN) XP_016860312.1:p.Glu23682Lys
XM_024453094.1:c.92539G>A (TTN) XP_024308862.1:p.Glu30847Lys
XM_024453095.1:c.92536G>A (TTN) XP_024308863.1:p.Glu30846Lys
XM_024453096.1:c.91969G>A (TTN) XP_024308864.1:p.Glu30657Lys
XM_024453097.1:c.89311G>A (TTN) XP_024308865.1:p.Glu29771Lys
XM_024453098.1:c.89230G>A (TTN) XP_024308866.1:p.Glu29744Lys
XM_024453099.1:c.70993G>A (TTN) XP_024308867.1:p.Glu23665Lys
XM_024453100.1:c.60847G>A (TTN) XP_024308868.1:p.Glu20283Lys