Canonical Allele Identifier: CA349500194

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593236T>A , CM000664.2:g.178593236T>A GRCh38
NC_000002.11:g.179457963T>A , CM000664.1:g.179457963T>A GRCh37
NC_000002.10:g.179166209T>A NCBI36
NG_011618.3:g.242567A>T , LRG_391:g.242567A>T
NG_051363.1:g.75410T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.51268A>T (TTN) ENSP00000343764.6:p.Asn17090Tyr
ENST00000342175.11:c.32353A>T (TTN) ENSP00000340554.6:p.Asn10785Tyr
ENST00000359218.10:c.32152A>T (TTN) ENSP00000352154.5:p.Asn10718Tyr
ENST00000342175.10:c.32353A>T (TTN) ENSP00000340554.6:p.Asn10785Tyr
ENST00000342992.10:c.51268A>T (TTN) ENSP00000343764.6:p.Asn17090Tyr
ENST00000359218.9:c.32152A>T (TTN) ENSP00000352154.5:p.Asn10718Tyr
ENST00000460472.6:c.31777A>T (TTN) ENSP00000434586.1:p.Asn10593Tyr
ENST00000589042.5:c.58972A>T (TTN) MANE Select ENSP00000467141.1:p.Asn19658Tyr
ENST00000591111.5:c.54049A>T (TTN) ENSP00000465570.1:p.Asn18017Tyr
ENST00000615779.4:c.54049A>T (TTN) ENSP00000483597.1:p.Asn18017Tyr
NM_001256850.1:c.54049A>T (TTN) NP_001243779.1:p.Asn18017Tyr
NM_001267550.2:c.58972A>T (TTN) MANE Select NP_001254479.2:p.Asn19658Tyr
NM_003319.4:c.31777A>T (TTN) NP_003310.4:p.Asn10593Tyr
NM_133378.4:c.51268A>T (TTN) NP_596869.4:p.Asn17090Tyr
NM_133432.3:c.32152A>T (TTN) NP_597676.3:p.Asn10718Tyr
NM_133437.4:c.32353A>T (TTN) NP_597681.4:p.Asn10785Tyr
NR_038271.1:n.597-4360T>A (TTN-AS1)
NR_038272.1:n.3364+1922T>A (TTN-AS1)
XM_011511729.1:c.58069A>T (TTN) XP_011510031.1:p.Asn19357Tyr
XM_011511730.1:c.31963A>T (TTN) XP_011510032.1:p.Asn10655Tyr
XM_011511731.1:c.31822A>T (TTN) XP_011510033.1:p.Asn10608Tyr
XM_017004819.1:c.57865A>T (TTN) XP_016860308.1:p.Asn19289Tyr
XM_017004820.1:c.53263A>T (TTN) XP_016860309.1:p.Asn17755Tyr
XM_017004821.1:c.53260A>T (TTN) XP_016860310.1:p.Asn17754Tyr
XM_017004822.1:c.50302A>T (TTN) XP_016860311.1:p.Asn16768Tyr
XM_017004823.1:c.31918A>T (TTN) XP_016860312.1:p.Asn10640Tyr
XM_024453094.1:c.53413A>T (TTN) XP_024308862.1:p.Asn17805Tyr
XM_024453095.1:c.53410A>T (TTN) XP_024308863.1:p.Asn17804Tyr
XM_024453096.1:c.52843A>T (TTN) XP_024308864.1:p.Asn17615Tyr
XM_024453097.1:c.50185A>T (TTN) XP_024308865.1:p.Asn16729Tyr
XM_024453098.1:c.50104A>T (TTN) XP_024308866.1:p.Asn16702Tyr
XM_024453099.1:c.31867A>T (TTN) XP_024308867.1:p.Asn10623Tyr
XM_024453100.1:c.21721A>T (TTN) XP_024308868.1:p.Asn7241Tyr