Canonical Allele Identifier: CA1310521538

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544354C= , CM000664.2:g.178544354C= GRCh38
NC_000002.11:g.179409081C= , CM000664.1:g.179409081C= GRCh37
NC_000002.10:g.179117327C= NCBI36
NG_011618.3:g.291449G= , LRG_391:g.291449G=
NG_051363.1:g.26528C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88171G= (TTN) ENSP00000343764.6:p.Val29391=
ENST00000342175.11:c.69256G= (TTN) ENSP00000340554.6:p.Val23086=
ENST00000359218.10:c.69055G= (TTN) ENSP00000352154.5:p.Val23019=
ENST00000342175.10:c.69256G= (TTN) ENSP00000340554.6:p.Val23086=
ENST00000342992.10:c.88171G= (TTN) ENSP00000343764.6:p.Val29391=
ENST00000359218.9:c.69055G= (TTN) ENSP00000352154.5:p.Val23019=
ENST00000460472.6:c.68680G= (TTN) ENSP00000434586.1:p.Val22894=
ENST00000589042.5:c.95875G= (TTN) MANE Select ENSP00000467141.1:p.Val31959=
ENST00000591111.5:c.90952G= (TTN) ENSP00000465570.1:p.Val30318=
ENST00000615779.4:c.90952G= (TTN) ENSP00000483597.1:p.Val30318=
NM_001256850.1:c.90952G= (TTN) NP_001243779.1:p.Val30318=
NM_001267550.2:c.95875G= (TTN) MANE Select NP_001254479.2:p.Val31959=
NM_003319.4:c.68680G= (TTN) NP_003310.4:p.Val22894=
NM_133378.4:c.88171G= (TTN) NP_596869.4:p.Val29391=
NM_133432.3:c.69055G= (TTN) NP_597676.3:p.Val23019=
NM_133437.4:c.69256G= (TTN) NP_597681.4:p.Val23086=
NR_038271.1:n.446+20718C= (TTN-AS1)
NR_038272.1:n.2043+1993C= (TTN-AS1)
XM_011511729.1:c.94972G= (TTN) XP_011510031.1:p.Val31658=
XM_011511730.1:c.68866G= (TTN) XP_011510032.1:p.Val22956=
XM_011511731.1:c.68725G= (TTN) XP_011510033.1:p.Val22909=
XM_017004819.1:c.94768G= (TTN) XP_016860308.1:p.Val31590=
XM_017004820.1:c.90166G= (TTN) XP_016860309.1:p.Val30056=
XM_017004821.1:c.90163G= (TTN) XP_016860310.1:p.Val30055=
XM_017004822.1:c.87205G= (TTN) XP_016860311.1:p.Val29069=
XM_017004823.1:c.68821G= (TTN) XP_016860312.1:p.Val22941=
XM_024453094.1:c.90316G= (TTN) XP_024308862.1:p.Val30106=
XM_024453095.1:c.90313G= (TTN) XP_024308863.1:p.Val30105=
XM_024453096.1:c.89746G= (TTN) XP_024308864.1:p.Val29916=
XM_024453097.1:c.87088G= (TTN) XP_024308865.1:p.Val29030=
XM_024453098.1:c.87007G= (TTN) XP_024308866.1:p.Val29003=
XM_024453099.1:c.68770G= (TTN) XP_024308867.1:p.Val22924=
XM_024453100.1:c.58624G= (TTN) XP_024308868.1:p.Val19542=