Canonical Allele Identifier: CA349405985

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530270G>C , CM000664.2:g.178530270G>C GRCh38
NC_000002.11:g.179394997G>C , CM000664.1:g.179394997G>C GRCh37
NC_000002.10:g.179103243G>C NCBI36
NG_011618.3:g.305533C>G , LRG_391:g.305533C>G
NG_051363.1:g.12444G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98641C>G (TTN) ENSP00000343764.6:p.Pro32881Ala
ENST00000342175.11:c.79726C>G (TTN) ENSP00000340554.6:p.Pro26576Ala
ENST00000359218.10:c.79525C>G (TTN) ENSP00000352154.5:p.Pro26509Ala
ENST00000342175.10:c.79726C>G (TTN) ENSP00000340554.6:p.Pro26576Ala
ENST00000342992.10:c.98641C>G (TTN) ENSP00000343764.6:p.Pro32881Ala
ENST00000359218.9:c.79525C>G (TTN) ENSP00000352154.5:p.Pro26509Ala
ENST00000460472.6:c.79150C>G (TTN) ENSP00000434586.1:p.Pro26384Ala
ENST00000589042.5:c.106345C>G (TTN) MANE Select ENSP00000467141.1:p.Pro35449Ala
ENST00000591111.5:c.101422C>G (TTN) ENSP00000465570.1:p.Pro33808Ala
ENST00000615779.4:c.101422C>G (TTN) ENSP00000483597.1:p.Pro33808Ala
NM_001256850.1:c.101422C>G (TTN) NP_001243779.1:p.Pro33808Ala
NM_001267550.2:c.106345C>G (TTN) MANE Select NP_001254479.2:p.Pro35449Ala
NM_003319.4:c.79150C>G (TTN) NP_003310.4:p.Pro26384Ala
NM_133378.4:c.98641C>G (TTN) NP_596869.4:p.Pro32881Ala
NM_133432.3:c.79525C>G (TTN) NP_597676.3:p.Pro26509Ala
NM_133437.4:c.79726C>G (TTN) NP_597681.4:p.Pro26576Ala
NR_038271.1:n.446+6634G>C (TTN-AS1)
NR_038272.1:n.220-5462G>C (TTN-AS1)
XM_011511729.1:c.105442C>G (TTN) XP_011510031.1:p.Pro35148Ala
XM_011511730.1:c.79336C>G (TTN) XP_011510032.1:p.Pro26446Ala
XM_011511731.1:c.79195C>G (TTN) XP_011510033.1:p.Pro26399Ala
XM_017004819.1:c.105238C>G (TTN) XP_016860308.1:p.Pro35080Ala
XM_017004820.1:c.100636C>G (TTN) XP_016860309.1:p.Pro33546Ala
XM_017004821.1:c.100633C>G (TTN) XP_016860310.1:p.Pro33545Ala
XM_017004822.1:c.97675C>G (TTN) XP_016860311.1:p.Pro32559Ala
XM_017004823.1:c.79291C>G (TTN) XP_016860312.1:p.Pro26431Ala
XM_024453094.1:c.100786C>G (TTN) XP_024308862.1:p.Pro33596Ala
XM_024453095.1:c.100783C>G (TTN) XP_024308863.1:p.Pro33595Ala
XM_024453096.1:c.100216C>G (TTN) XP_024308864.1:p.Pro33406Ala
XM_024453097.1:c.97558C>G (TTN) XP_024308865.1:p.Pro32520Ala
XM_024453098.1:c.97477C>G (TTN) XP_024308866.1:p.Pro32493Ala
XM_024453099.1:c.79240C>G (TTN) XP_024308867.1:p.Pro26414Ala
XM_024453100.1:c.69094C>G (TTN) XP_024308868.1:p.Pro23032Ala