Canonical Allele Identifier: CA349411888

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532246A>C , CM000664.2:g.178532246A>C GRCh38
NC_000002.11:g.179396973A>C , CM000664.1:g.179396973A>C GRCh37
NC_000002.10:g.179105219A>C NCBI36
NG_011618.3:g.303557T>G , LRG_391:g.303557T>G
NG_051363.1:g.14420A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96665T>G (TTN) ENSP00000343764.6:p.Leu32222Arg
ENST00000342175.11:c.77750T>G (TTN) ENSP00000340554.6:p.Leu25917Arg
ENST00000359218.10:c.77549T>G (TTN) ENSP00000352154.5:p.Leu25850Arg
ENST00000342175.10:c.77750T>G (TTN) ENSP00000340554.6:p.Leu25917Arg
ENST00000342992.10:c.96665T>G (TTN) ENSP00000343764.6:p.Leu32222Arg
ENST00000359218.9:c.77549T>G (TTN) ENSP00000352154.5:p.Leu25850Arg
ENST00000460472.6:c.77174T>G (TTN) ENSP00000434586.1:p.Leu25725Arg
ENST00000589042.5:c.104369T>G (TTN) MANE Select ENSP00000467141.1:p.Leu34790Arg
ENST00000591111.5:c.99446T>G (TTN) ENSP00000465570.1:p.Leu33149Arg
ENST00000615779.4:c.99446T>G (TTN) ENSP00000483597.1:p.Leu33149Arg
NM_001256850.1:c.99446T>G (TTN) NP_001243779.1:p.Leu33149Arg
NM_001267550.2:c.104369T>G (TTN) MANE Select NP_001254479.2:p.Leu34790Arg
NM_003319.4:c.77174T>G (TTN) NP_003310.4:p.Leu25725Arg
NM_133378.4:c.96665T>G (TTN) NP_596869.4:p.Leu32222Arg
NM_133432.3:c.77549T>G (TTN) NP_597676.3:p.Leu25850Arg
NM_133437.4:c.77750T>G (TTN) NP_597681.4:p.Leu25917Arg
NR_038271.1:n.446+8610A>C (TTN-AS1)
NR_038272.1:n.220-3486A>C (TTN-AS1)
XM_011511729.1:c.103466T>G (TTN) XP_011510031.1:p.Leu34489Arg
XM_011511730.1:c.77360T>G (TTN) XP_011510032.1:p.Leu25787Arg
XM_011511731.1:c.77219T>G (TTN) XP_011510033.1:p.Leu25740Arg
XM_017004819.1:c.103262T>G (TTN) XP_016860308.1:p.Leu34421Arg
XM_017004820.1:c.98660T>G (TTN) XP_016860309.1:p.Leu32887Arg
XM_017004821.1:c.98657T>G (TTN) XP_016860310.1:p.Leu32886Arg
XM_017004822.1:c.95699T>G (TTN) XP_016860311.1:p.Leu31900Arg
XM_017004823.1:c.77315T>G (TTN) XP_016860312.1:p.Leu25772Arg
XM_024453094.1:c.98810T>G (TTN) XP_024308862.1:p.Leu32937Arg
XM_024453095.1:c.98807T>G (TTN) XP_024308863.1:p.Leu32936Arg
XM_024453096.1:c.98240T>G (TTN) XP_024308864.1:p.Leu32747Arg
XM_024453097.1:c.95582T>G (TTN) XP_024308865.1:p.Leu31861Arg
XM_024453098.1:c.95501T>G (TTN) XP_024308866.1:p.Leu31834Arg
XM_024453099.1:c.77264T>G (TTN) XP_024308867.1:p.Leu25755Arg
XM_024453100.1:c.67118T>G (TTN) XP_024308868.1:p.Leu22373Arg