Canonical Allele Identifier: CA349600892

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567287T>G , CM000664.2:g.178567287T>G GRCh38
NC_000002.11:g.179432014T>G , CM000664.1:g.179432014T>G GRCh37
NC_000002.10:g.179140260T>G NCBI36
NG_011618.3:g.268516A>C , LRG_391:g.268516A>C
NG_051363.1:g.49461T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71141A>C (TTN) ENSP00000343764.6:p.Lys23714Thr
ENST00000342175.11:c.52226A>C (TTN) ENSP00000340554.6:p.Lys17409Thr
ENST00000359218.10:c.52025A>C (TTN) ENSP00000352154.5:p.Lys17342Thr
ENST00000342175.10:c.52226A>C (TTN) ENSP00000340554.6:p.Lys17409Thr
ENST00000342992.10:c.71141A>C (TTN) ENSP00000343764.6:p.Lys23714Thr
ENST00000359218.9:c.52025A>C (TTN) ENSP00000352154.5:p.Lys17342Thr
ENST00000460472.6:c.51650A>C (TTN) ENSP00000434586.1:p.Lys17217Thr
ENST00000589042.5:c.78845A>C (TTN) MANE Select ENSP00000467141.1:p.Lys26282Thr
ENST00000591111.5:c.73922A>C (TTN) ENSP00000465570.1:p.Lys24641Thr
ENST00000615779.4:c.73922A>C (TTN) ENSP00000483597.1:p.Lys24641Thr
NM_001256850.1:c.73922A>C (TTN) NP_001243779.1:p.Lys24641Thr
NM_001267550.2:c.78845A>C (TTN) MANE Select NP_001254479.2:p.Lys26282Thr
NM_003319.4:c.51650A>C (TTN) NP_003310.4:p.Lys17217Thr
NM_133378.4:c.71141A>C (TTN) NP_596869.4:p.Lys23714Thr
NM_133432.3:c.52025A>C (TTN) NP_597676.3:p.Lys17342Thr
NM_133437.4:c.52226A>C (TTN) NP_597681.4:p.Lys17409Thr
NR_038271.1:n.447-4013T>G (TTN-AS1)
NR_038272.1:n.2044-15285T>G (TTN-AS1)
XM_011511729.1:c.77942A>C (TTN) XP_011510031.1:p.Lys25981Thr
XM_011511730.1:c.51836A>C (TTN) XP_011510032.1:p.Lys17279Thr
XM_011511731.1:c.51695A>C (TTN) XP_011510033.1:p.Lys17232Thr
XM_017004819.1:c.77738A>C (TTN) XP_016860308.1:p.Lys25913Thr
XM_017004820.1:c.73136A>C (TTN) XP_016860309.1:p.Lys24379Thr
XM_017004821.1:c.73133A>C (TTN) XP_016860310.1:p.Lys24378Thr
XM_017004822.1:c.70175A>C (TTN) XP_016860311.1:p.Lys23392Thr
XM_017004823.1:c.51791A>C (TTN) XP_016860312.1:p.Lys17264Thr
XM_024453094.1:c.73286A>C (TTN) XP_024308862.1:p.Lys24429Thr
XM_024453095.1:c.73283A>C (TTN) XP_024308863.1:p.Lys24428Thr
XM_024453096.1:c.72716A>C (TTN) XP_024308864.1:p.Lys24239Thr
XM_024453097.1:c.70058A>C (TTN) XP_024308865.1:p.Lys23353Thr
XM_024453098.1:c.69977A>C (TTN) XP_024308866.1:p.Lys23326Thr
XM_024453099.1:c.51740A>C (TTN) XP_024308867.1:p.Lys17247Thr
XM_024453100.1:c.41594A>C (TTN) XP_024308868.1:p.Lys13865Thr