Canonical Allele Identifier: CA1310514313

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527121A= , CM000664.2:g.178527121A= GRCh38
NC_000002.11:g.179391848A= , CM000664.1:g.179391848A= GRCh37
NC_000002.10:g.179100094A= NCBI36
NG_011618.3:g.308682T= , LRG_391:g.308682T=
NG_051363.1:g.9295A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100163T= (TTN) ENSP00000343764.6:p.Leu33388=
ENST00000342175.11:c.81248T= (TTN) ENSP00000340554.6:p.Leu27083=
ENST00000359218.10:c.81047T= (TTN) ENSP00000352154.5:p.Leu27016=
ENST00000342175.10:c.81248T= (TTN) ENSP00000340554.6:p.Leu27083=
ENST00000342992.10:c.100163T= (TTN) ENSP00000343764.6:p.Leu33388=
ENST00000359218.9:c.81047T= (TTN) ENSP00000352154.5:p.Leu27016=
ENST00000460472.6:c.80672T= (TTN) ENSP00000434586.1:p.Leu26891=
ENST00000589042.5:c.107867T= (TTN) MANE Select ENSP00000467141.1:p.Leu35956=
ENST00000591111.5:c.102944T= (TTN) ENSP00000465570.1:p.Leu34315=
ENST00000615779.4:c.102944T= (TTN) ENSP00000483597.1:p.Leu34315=
NM_001256850.1:c.102944T= (TTN) NP_001243779.1:p.Leu34315=
NM_001267550.2:c.107867T= (TTN) MANE Select NP_001254479.2:p.Leu35956=
NM_003319.4:c.80672T= (TTN) NP_003310.4:p.Leu26891=
NM_133378.4:c.100163T= (TTN) NP_596869.4:p.Leu33388=
NM_133432.3:c.81047T= (TTN) NP_597676.3:p.Leu27016=
NM_133437.4:c.81248T= (TTN) NP_597681.4:p.Leu27083=
NR_038271.1:n.446+3485A= (TTN-AS1)
NR_038272.1:n.219+3485A= (TTN-AS1)
XM_011511729.1:c.106964T= (TTN) XP_011510031.1:p.Leu35655=
XM_011511730.1:c.80858T= (TTN) XP_011510032.1:p.Leu26953=
XM_011511731.1:c.80717T= (TTN) XP_011510033.1:p.Leu26906=
XM_017004819.1:c.106760T= (TTN) XP_016860308.1:p.Leu35587=
XM_017004820.1:c.102158T= (TTN) XP_016860309.1:p.Leu34053=
XM_017004821.1:c.102155T= (TTN) XP_016860310.1:p.Leu34052=
XM_017004822.1:c.99197T= (TTN) XP_016860311.1:p.Leu33066=
XM_017004823.1:c.80813T= (TTN) XP_016860312.1:p.Leu26938=
XM_024453094.1:c.102308T= (TTN) XP_024308862.1:p.Leu34103=
XM_024453095.1:c.102305T= (TTN) XP_024308863.1:p.Leu34102=
XM_024453096.1:c.101738T= (TTN) XP_024308864.1:p.Leu33913=
XM_024453097.1:c.99080T= (TTN) XP_024308865.1:p.Leu33027=
XM_024453098.1:c.98999T= (TTN) XP_024308866.1:p.Leu33000=
XM_024453099.1:c.80762T= (TTN) XP_024308867.1:p.Leu26921=
XM_024453100.1:c.70616T= (TTN) XP_024308868.1:p.Leu23539=