Canonical Allele Identifier: CA349600888

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567286T>G , CM000664.2:g.178567286T>G GRCh38
NC_000002.11:g.179432013T>G , CM000664.1:g.179432013T>G GRCh37
NC_000002.10:g.179140259T>G NCBI36
NG_011618.3:g.268517A>C , LRG_391:g.268517A>C
NG_051363.1:g.49460T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71142A>C (TTN) ENSP00000343764.6:p.Lys23714Asn
ENST00000342175.11:c.52227A>C (TTN) ENSP00000340554.6:p.Lys17409Asn
ENST00000359218.10:c.52026A>C (TTN) ENSP00000352154.5:p.Lys17342Asn
ENST00000342175.10:c.52227A>C (TTN) ENSP00000340554.6:p.Lys17409Asn
ENST00000342992.10:c.71142A>C (TTN) ENSP00000343764.6:p.Lys23714Asn
ENST00000359218.9:c.52026A>C (TTN) ENSP00000352154.5:p.Lys17342Asn
ENST00000460472.6:c.51651A>C (TTN) ENSP00000434586.1:p.Lys17217Asn
ENST00000589042.5:c.78846A>C (TTN) MANE Select ENSP00000467141.1:p.Lys26282Asn
ENST00000591111.5:c.73923A>C (TTN) ENSP00000465570.1:p.Lys24641Asn
ENST00000615779.4:c.73923A>C (TTN) ENSP00000483597.1:p.Lys24641Asn
NM_001256850.1:c.73923A>C (TTN) NP_001243779.1:p.Lys24641Asn
NM_001267550.2:c.78846A>C (TTN) MANE Select NP_001254479.2:p.Lys26282Asn
NM_003319.4:c.51651A>C (TTN) NP_003310.4:p.Lys17217Asn
NM_133378.4:c.71142A>C (TTN) NP_596869.4:p.Lys23714Asn
NM_133432.3:c.52026A>C (TTN) NP_597676.3:p.Lys17342Asn
NM_133437.4:c.52227A>C (TTN) NP_597681.4:p.Lys17409Asn
NR_038271.1:n.447-4014T>G (TTN-AS1)
NR_038272.1:n.2044-15286T>G (TTN-AS1)
XM_011511729.1:c.77943A>C (TTN) XP_011510031.1:p.Lys25981Asn
XM_011511730.1:c.51837A>C (TTN) XP_011510032.1:p.Lys17279Asn
XM_011511731.1:c.51696A>C (TTN) XP_011510033.1:p.Lys17232Asn
XM_017004819.1:c.77739A>C (TTN) XP_016860308.1:p.Lys25913Asn
XM_017004820.1:c.73137A>C (TTN) XP_016860309.1:p.Lys24379Asn
XM_017004821.1:c.73134A>C (TTN) XP_016860310.1:p.Lys24378Asn
XM_017004822.1:c.70176A>C (TTN) XP_016860311.1:p.Lys23392Asn
XM_017004823.1:c.51792A>C (TTN) XP_016860312.1:p.Lys17264Asn
XM_024453094.1:c.73287A>C (TTN) XP_024308862.1:p.Lys24429Asn
XM_024453095.1:c.73284A>C (TTN) XP_024308863.1:p.Lys24428Asn
XM_024453096.1:c.72717A>C (TTN) XP_024308864.1:p.Lys24239Asn
XM_024453097.1:c.70059A>C (TTN) XP_024308865.1:p.Lys23353Asn
XM_024453098.1:c.69978A>C (TTN) XP_024308866.1:p.Lys23326Asn
XM_024453099.1:c.51741A>C (TTN) XP_024308867.1:p.Lys17247Asn
XM_024453100.1:c.41595A>C (TTN) XP_024308868.1:p.Lys13865Asn