Canonical Allele Identifier: CA2662129681

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178581416A>T , CM000664.2:g.178581416A>T GRCh38
NC_000002.11:g.179446143A>T , CM000664.1:g.179446143A>T GRCh37
NC_000002.10:g.179154389A>T NCBI36
NG_011618.3:g.254387T>A , LRG_391:g.254387T>A
NG_051363.1:g.63590A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.59065+83T>A (TTN) ENSP00000343764.6:n.59065+83T>A
ENST00000342175.11:c.40150+83T>A (TTN) ENSP00000340554.6:n.40150+83T>A
ENST00000359218.10:c.39949+83T>A (TTN) ENSP00000352154.5:n.39949+83T>A
ENST00000342175.10:c.40150+83T>A (TTN) ENSP00000340554.6:n.40150+83T>A
ENST00000342992.10:c.59065+83T>A (TTN) ENSP00000343764.6:n.59065+83T>A
ENST00000359218.9:c.39949+83T>A (TTN) ENSP00000352154.5:n.39949+83T>A
ENST00000460472.6:c.39574+83T>A (TTN) ENSP00000434586.1:n.39574+83T>A
ENST00000589042.5:c.66769+83T>A (TTN) MANE Select ENSP00000467141.1:n.66769+83T>A
ENST00000591111.5:c.61846+83T>A (TTN) ENSP00000465570.1:n.61846+83T>A
ENST00000615779.4:c.61846+83T>A (TTN) ENSP00000483597.1:n.61846+83T>A
NM_001256850.1:c.61846+83T>A (TTN) NP_001243779.1:n.61846+83T>A
NM_001267550.2:c.66769+83T>A (TTN) MANE Select NP_001254479.2:n.66769+83T>A
NM_003319.4:c.39574+83T>A (TTN) NP_003310.4:n.39574+83T>A
NM_133378.4:c.59065+83T>A (TTN) NP_596869.4:n.59065+83T>A
NM_133432.3:c.39949+83T>A (TTN) NP_597676.3:n.39949+83T>A
NM_133437.4:c.40150+83T>A (TTN) NP_597681.4:n.40150+83T>A
NR_038271.1:n.596+9967A>T (TTN-AS1)
NR_038272.1:n.2044-1156A>T (TTN-AS1)
XM_011511729.1:c.65866+83T>A (TTN) XP_011510031.1:n.65866+83T>A
XM_011511730.1:c.39760+83T>A (TTN) XP_011510032.1:n.39760+83T>A
XM_011511731.1:c.39619+83T>A (TTN) XP_011510033.1:n.39619+83T>A
XM_017004819.1:c.65662+83T>A (TTN) XP_016860308.1:n.65662+83T>A
XM_017004820.1:c.61060+83T>A (TTN) XP_016860309.1:n.61060+83T>A
XM_017004821.1:c.61057+83T>A (TTN) XP_016860310.1:n.61057+83T>A
XM_017004822.1:c.58099+83T>A (TTN) XP_016860311.1:n.58099+83T>A
XM_017004823.1:c.39715+83T>A (TTN) XP_016860312.1:n.39715+83T>A
XM_024453094.1:c.61210+83T>A (TTN) XP_024308862.1:n.61210+83T>A
XM_024453095.1:c.61207+83T>A (TTN) XP_024308863.1:n.61207+83T>A
XM_024453096.1:c.60640+83T>A (TTN) XP_024308864.1:n.60640+83T>A
XM_024453097.1:c.57982+83T>A (TTN) XP_024308865.1:n.57982+83T>A
XM_024453098.1:c.57901+83T>A (TTN) XP_024308866.1:n.57901+83T>A
XM_024453099.1:c.39664+83T>A (TTN) XP_024308867.1:n.39664+83T>A
XM_024453100.1:c.29518+83T>A (TTN) XP_024308868.1:n.29518+83T>A