Canonical Allele Identifier: CA349543409

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559645A>C , CM000664.2:g.178559645A>C GRCh38
NC_000002.11:g.179424372A>C , CM000664.1:g.179424372A>C GRCh37
NC_000002.10:g.179132618A>C NCBI36
NG_011618.3:g.276158T>G , LRG_391:g.276158T>G
NG_051363.1:g.41819A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.78783T>G (TTN) ENSP00000343764.6:p.Asn26261Lys
ENST00000342175.11:c.59868T>G (TTN) ENSP00000340554.6:p.Asn19956Lys
ENST00000359218.10:c.59667T>G (TTN) ENSP00000352154.5:p.Asn19889Lys
ENST00000342175.10:c.59868T>G (TTN) ENSP00000340554.6:p.Asn19956Lys
ENST00000342992.10:c.78783T>G (TTN) ENSP00000343764.6:p.Asn26261Lys
ENST00000359218.9:c.59667T>G (TTN) ENSP00000352154.5:p.Asn19889Lys
ENST00000460472.6:c.59292T>G (TTN) ENSP00000434586.1:p.Asn19764Lys
ENST00000589042.5:c.86487T>G (TTN) MANE Select ENSP00000467141.1:p.Asn28829Lys
ENST00000591111.5:c.81564T>G (TTN) ENSP00000465570.1:p.Asn27188Lys
ENST00000615779.4:c.81564T>G (TTN) ENSP00000483597.1:p.Asn27188Lys
NM_001256850.1:c.81564T>G (TTN) NP_001243779.1:p.Asn27188Lys
NM_001267550.2:c.86487T>G (TTN) MANE Select NP_001254479.2:p.Asn28829Lys
NM_003319.4:c.59292T>G (TTN) NP_003310.4:p.Asn19764Lys
NM_133378.4:c.78783T>G (TTN) NP_596869.4:p.Asn26261Lys
NM_133432.3:c.59667T>G (TTN) NP_597676.3:p.Asn19889Lys
NM_133437.4:c.59868T>G (TTN) NP_597681.4:p.Asn19956Lys
NR_038271.1:n.447-11655A>C (TTN-AS1)
NR_038272.1:n.2043+17284A>C (TTN-AS1)
XM_011511729.1:c.85584T>G (TTN) XP_011510031.1:p.Asn28528Lys
XM_011511730.1:c.59478T>G (TTN) XP_011510032.1:p.Asn19826Lys
XM_011511731.1:c.59337T>G (TTN) XP_011510033.1:p.Asn19779Lys
XM_017004819.1:c.85380T>G (TTN) XP_016860308.1:p.Asn28460Lys
XM_017004820.1:c.80778T>G (TTN) XP_016860309.1:p.Asn26926Lys
XM_017004821.1:c.80775T>G (TTN) XP_016860310.1:p.Asn26925Lys
XM_017004822.1:c.77817T>G (TTN) XP_016860311.1:p.Asn25939Lys
XM_017004823.1:c.59433T>G (TTN) XP_016860312.1:p.Asn19811Lys
XM_024453094.1:c.80928T>G (TTN) XP_024308862.1:p.Asn26976Lys
XM_024453095.1:c.80925T>G (TTN) XP_024308863.1:p.Asn26975Lys
XM_024453096.1:c.80358T>G (TTN) XP_024308864.1:p.Asn26786Lys
XM_024453097.1:c.77700T>G (TTN) XP_024308865.1:p.Asn25900Lys
XM_024453098.1:c.77619T>G (TTN) XP_024308866.1:p.Asn25873Lys
XM_024453099.1:c.59382T>G (TTN) XP_024308867.1:p.Asn19794Lys
XM_024453100.1:c.49236T>G (TTN) XP_024308868.1:p.Asn16412Lys