Canonical Allele Identifier: CA349411829

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532221C>G , CM000664.2:g.178532221C>G GRCh38
NC_000002.11:g.179396948C>G , CM000664.1:g.179396948C>G GRCh37
NC_000002.10:g.179105194C>G NCBI36
NG_011618.3:g.303582G>C , LRG_391:g.303582G>C
NG_051363.1:g.14395C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96690G>C (TTN) ENSP00000343764.6:p.Lys32230Asn
ENST00000342175.11:c.77775G>C (TTN) ENSP00000340554.6:p.Lys25925Asn
ENST00000359218.10:c.77574G>C (TTN) ENSP00000352154.5:p.Lys25858Asn
ENST00000342175.10:c.77775G>C (TTN) ENSP00000340554.6:p.Lys25925Asn
ENST00000342992.10:c.96690G>C (TTN) ENSP00000343764.6:p.Lys32230Asn
ENST00000359218.9:c.77574G>C (TTN) ENSP00000352154.5:p.Lys25858Asn
ENST00000460472.6:c.77199G>C (TTN) ENSP00000434586.1:p.Lys25733Asn
ENST00000589042.5:c.104394G>C (TTN) MANE Select ENSP00000467141.1:p.Lys34798Asn
ENST00000591111.5:c.99471G>C (TTN) ENSP00000465570.1:p.Lys33157Asn
ENST00000615779.4:c.99471G>C (TTN) ENSP00000483597.1:p.Lys33157Asn
NM_001256850.1:c.99471G>C (TTN) NP_001243779.1:p.Lys33157Asn
NM_001267550.2:c.104394G>C (TTN) MANE Select NP_001254479.2:p.Lys34798Asn
NM_003319.4:c.77199G>C (TTN) NP_003310.4:p.Lys25733Asn
NM_133378.4:c.96690G>C (TTN) NP_596869.4:p.Lys32230Asn
NM_133432.3:c.77574G>C (TTN) NP_597676.3:p.Lys25858Asn
NM_133437.4:c.77775G>C (TTN) NP_597681.4:p.Lys25925Asn
NR_038271.1:n.446+8585C>G (TTN-AS1)
NR_038272.1:n.220-3511C>G (TTN-AS1)
XM_011511729.1:c.103491G>C (TTN) XP_011510031.1:p.Lys34497Asn
XM_011511730.1:c.77385G>C (TTN) XP_011510032.1:p.Lys25795Asn
XM_011511731.1:c.77244G>C (TTN) XP_011510033.1:p.Lys25748Asn
XM_017004819.1:c.103287G>C (TTN) XP_016860308.1:p.Lys34429Asn
XM_017004820.1:c.98685G>C (TTN) XP_016860309.1:p.Lys32895Asn
XM_017004821.1:c.98682G>C (TTN) XP_016860310.1:p.Lys32894Asn
XM_017004822.1:c.95724G>C (TTN) XP_016860311.1:p.Lys31908Asn
XM_017004823.1:c.77340G>C (TTN) XP_016860312.1:p.Lys25780Asn
XM_024453094.1:c.98835G>C (TTN) XP_024308862.1:p.Lys32945Asn
XM_024453095.1:c.98832G>C (TTN) XP_024308863.1:p.Lys32944Asn
XM_024453096.1:c.98265G>C (TTN) XP_024308864.1:p.Lys32755Asn
XM_024453097.1:c.95607G>C (TTN) XP_024308865.1:p.Lys31869Asn
XM_024453098.1:c.95526G>C (TTN) XP_024308866.1:p.Lys31842Asn
XM_024453099.1:c.77289G>C (TTN) XP_024308867.1:p.Lys25763Asn
XM_024453100.1:c.67143G>C (TTN) XP_024308868.1:p.Lys22381Asn