Canonical Allele Identifier: CA349411016

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531870T>A , CM000664.2:g.178531870T>A GRCh38
NC_000002.11:g.179396597T>A , CM000664.1:g.179396597T>A GRCh37
NC_000002.10:g.179104843T>A NCBI36
NG_011618.3:g.303933A>T , LRG_391:g.303933A>T
NG_051363.1:g.14044T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.97041A>T (TTN) ENSP00000343764.6:p.Lys32347Asn
ENST00000342175.11:c.78126A>T (TTN) ENSP00000340554.6:p.Lys26042Asn
ENST00000359218.10:c.77925A>T (TTN) ENSP00000352154.5:p.Lys25975Asn
ENST00000342175.10:c.78126A>T (TTN) ENSP00000340554.6:p.Lys26042Asn
ENST00000342992.10:c.97041A>T (TTN) ENSP00000343764.6:p.Lys32347Asn
ENST00000359218.9:c.77925A>T (TTN) ENSP00000352154.5:p.Lys25975Asn
ENST00000460472.6:c.77550A>T (TTN) ENSP00000434586.1:p.Lys25850Asn
ENST00000589042.5:c.104745A>T (TTN) MANE Select ENSP00000467141.1:p.Lys34915Asn
ENST00000591111.5:c.99822A>T (TTN) ENSP00000465570.1:p.Lys33274Asn
ENST00000615779.4:c.99822A>T (TTN) ENSP00000483597.1:p.Lys33274Asn
NM_001256850.1:c.99822A>T (TTN) NP_001243779.1:p.Lys33274Asn
NM_001267550.2:c.104745A>T (TTN) MANE Select NP_001254479.2:p.Lys34915Asn
NM_003319.4:c.77550A>T (TTN) NP_003310.4:p.Lys25850Asn
NM_133378.4:c.97041A>T (TTN) NP_596869.4:p.Lys32347Asn
NM_133432.3:c.77925A>T (TTN) NP_597676.3:p.Lys25975Asn
NM_133437.4:c.78126A>T (TTN) NP_597681.4:p.Lys26042Asn
NR_038271.1:n.446+8234T>A (TTN-AS1)
NR_038272.1:n.220-3862T>A (TTN-AS1)
XM_011511729.1:c.103842A>T (TTN) XP_011510031.1:p.Lys34614Asn
XM_011511730.1:c.77736A>T (TTN) XP_011510032.1:p.Lys25912Asn
XM_011511731.1:c.77595A>T (TTN) XP_011510033.1:p.Lys25865Asn
XM_017004819.1:c.103638A>T (TTN) XP_016860308.1:p.Lys34546Asn
XM_017004820.1:c.99036A>T (TTN) XP_016860309.1:p.Lys33012Asn
XM_017004821.1:c.99033A>T (TTN) XP_016860310.1:p.Lys33011Asn
XM_017004822.1:c.96075A>T (TTN) XP_016860311.1:p.Lys32025Asn
XM_017004823.1:c.77691A>T (TTN) XP_016860312.1:p.Lys25897Asn
XM_024453094.1:c.99186A>T (TTN) XP_024308862.1:p.Lys33062Asn
XM_024453095.1:c.99183A>T (TTN) XP_024308863.1:p.Lys33061Asn
XM_024453096.1:c.98616A>T (TTN) XP_024308864.1:p.Lys32872Asn
XM_024453097.1:c.95958A>T (TTN) XP_024308865.1:p.Lys31986Asn
XM_024453098.1:c.95877A>T (TTN) XP_024308866.1:p.Lys31959Asn
XM_024453099.1:c.77640A>T (TTN) XP_024308867.1:p.Lys25880Asn
XM_024453100.1:c.67494A>T (TTN) XP_024308868.1:p.Lys22498Asn