Canonical Allele Identifier: CA1993597

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178604038T>C , CM000664.2:g.178604038T>C GRCh38
NC_000002.11:g.179468765T>C , CM000664.1:g.179468765T>C GRCh37
NC_000002.10:g.179177010T>C NCBI36
NG_011618.3:g.231765A>G , LRG_391:g.231765A>G
NG_051363.1:g.86212T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.46945A>G (TTN) ENSP00000343764.6:p.Ser15649Gly
ENST00000342175.11:c.28030A>G (TTN) ENSP00000340554.6:p.Ser9344Gly
ENST00000359218.10:c.27829A>G (TTN) ENSP00000352154.5:p.Ser9277Gly
ENST00000342175.10:c.28030A>G (TTN) ENSP00000340554.6:p.Ser9344Gly
ENST00000342992.10:c.46945A>G (TTN) ENSP00000343764.6:p.Ser15649Gly
ENST00000359218.9:c.27829A>G (TTN) ENSP00000352154.5:p.Ser9277Gly
ENST00000460472.6:c.27454A>G (TTN) ENSP00000434586.1:p.Ser9152Gly
ENST00000589042.5:c.54649A>G (TTN) MANE Select ENSP00000467141.1:p.Ser18217Gly
ENST00000591111.5:c.49726A>G (TTN) ENSP00000465570.1:p.Ser16576Gly
ENST00000615779.4:c.49726A>G (TTN) ENSP00000483597.1:p.Ser16576Gly
NM_001256850.1:c.49726A>G (TTN) NP_001243779.1:p.Ser16576Gly
NM_001267550.2:c.54649A>G (TTN) MANE Select NP_001254479.2:p.Ser18217Gly
NM_003319.4:c.27454A>G (TTN) NP_003310.4:p.Ser9152Gly
NM_133378.4:c.46945A>G (TTN) NP_596869.4:p.Ser15649Gly
NM_133432.3:c.27829A>G (TTN) NP_597676.3:p.Ser9277Gly
NM_133437.4:c.28030A>G (TTN) NP_597681.4:p.Ser9344Gly
NR_038271.1:n.683-4129T>C (TTN-AS1)
NR_038272.1:n.3918-693T>C (TTN-AS1)
XM_011511729.1:c.53746A>G (TTN) XP_011510031.1:p.Ser17916Gly
XM_011511730.1:c.27640A>G (TTN) XP_011510032.1:p.Ser9214Gly
XM_011511731.1:c.27499A>G (TTN) XP_011510033.1:p.Ser9167Gly
XM_017004819.1:c.53542A>G (TTN) XP_016860308.1:p.Ser17848Gly
XM_017004820.1:c.48940A>G (TTN) XP_016860309.1:p.Ser16314Gly
XM_017004821.1:c.48937A>G (TTN) XP_016860310.1:p.Ser16313Gly
XM_017004822.1:c.45979A>G (TTN) XP_016860311.1:p.Ser15327Gly
XM_017004823.1:c.27595A>G (TTN) XP_016860312.1:p.Ser9199Gly
XM_024453094.1:c.49090A>G (TTN) XP_024308862.1:p.Ser16364Gly
XM_024453095.1:c.49087A>G (TTN) XP_024308863.1:p.Ser16363Gly
XM_024453096.1:c.48520A>G (TTN) XP_024308864.1:p.Ser16174Gly
XM_024453097.1:c.45862A>G (TTN) XP_024308865.1:p.Ser15288Gly
XM_024453098.1:c.45781A>G (TTN) XP_024308866.1:p.Ser15261Gly
XM_024453099.1:c.27544A>G (TTN) XP_024308867.1:p.Ser9182Gly
XM_024453100.1:c.17398A>G (TTN) XP_024308868.1:p.Ser5800Gly