Canonical Allele Identifier: CA349572896

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563572G>C , CM000664.2:g.178563572G>C GRCh38
NC_000002.11:g.179428299G>C , CM000664.1:g.179428299G>C GRCh37
NC_000002.10:g.179136545G>C NCBI36
NG_011618.3:g.272231C>G , LRG_391:g.272231C>G
NG_051363.1:g.45746G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.74856C>G (TTN) ENSP00000343764.6:p.Asn24952Lys
ENST00000342175.11:c.55941C>G (TTN) ENSP00000340554.6:p.Asn18647Lys
ENST00000359218.10:c.55740C>G (TTN) ENSP00000352154.5:p.Asn18580Lys
ENST00000342175.10:c.55941C>G (TTN) ENSP00000340554.6:p.Asn18647Lys
ENST00000342992.10:c.74856C>G (TTN) ENSP00000343764.6:p.Asn24952Lys
ENST00000359218.9:c.55740C>G (TTN) ENSP00000352154.5:p.Asn18580Lys
ENST00000460472.6:c.55365C>G (TTN) ENSP00000434586.1:p.Asn18455Lys
ENST00000589042.5:c.82560C>G (TTN) MANE Select ENSP00000467141.1:p.Asn27520Lys
ENST00000591111.5:c.77637C>G (TTN) ENSP00000465570.1:p.Asn25879Lys
ENST00000615779.4:c.77637C>G (TTN) ENSP00000483597.1:p.Asn25879Lys
NM_001256850.1:c.77637C>G (TTN) NP_001243779.1:p.Asn25879Lys
NM_001267550.2:c.82560C>G (TTN) MANE Select NP_001254479.2:p.Asn27520Lys
NM_003319.4:c.55365C>G (TTN) NP_003310.4:p.Asn18455Lys
NM_133378.4:c.74856C>G (TTN) NP_596869.4:p.Asn24952Lys
NM_133432.3:c.55740C>G (TTN) NP_597676.3:p.Asn18580Lys
NM_133437.4:c.55941C>G (TTN) NP_597681.4:p.Asn18647Lys
NR_038271.1:n.447-7728G>C (TTN-AS1)
NR_038272.1:n.2044-19000G>C (TTN-AS1)
XM_011511729.1:c.81657C>G (TTN) XP_011510031.1:p.Asn27219Lys
XM_011511730.1:c.55551C>G (TTN) XP_011510032.1:p.Asn18517Lys
XM_011511731.1:c.55410C>G (TTN) XP_011510033.1:p.Asn18470Lys
XM_017004819.1:c.81453C>G (TTN) XP_016860308.1:p.Asn27151Lys
XM_017004820.1:c.76851C>G (TTN) XP_016860309.1:p.Asn25617Lys
XM_017004821.1:c.76848C>G (TTN) XP_016860310.1:p.Asn25616Lys
XM_017004822.1:c.73890C>G (TTN) XP_016860311.1:p.Asn24630Lys
XM_017004823.1:c.55506C>G (TTN) XP_016860312.1:p.Asn18502Lys
XM_024453094.1:c.77001C>G (TTN) XP_024308862.1:p.Asn25667Lys
XM_024453095.1:c.76998C>G (TTN) XP_024308863.1:p.Asn25666Lys
XM_024453096.1:c.76431C>G (TTN) XP_024308864.1:p.Asn25477Lys
XM_024453097.1:c.73773C>G (TTN) XP_024308865.1:p.Asn24591Lys
XM_024453098.1:c.73692C>G (TTN) XP_024308866.1:p.Asn24564Lys
XM_024453099.1:c.55455C>G (TTN) XP_024308867.1:p.Asn18485Lys
XM_024453100.1:c.45309C>G (TTN) XP_024308868.1:p.Asn15103Lys