Canonical Allele Identifier: CA349398250

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527058A>C , CM000664.2:g.178527058A>C GRCh38
NC_000002.11:g.179391785A>C , CM000664.1:g.179391785A>C GRCh37
NC_000002.10:g.179100031A>C NCBI36
NG_011618.3:g.308745T>G , LRG_391:g.308745T>G
NG_051363.1:g.9232A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.100226T>G (TTN) ENSP00000343764.6:p.Phe33409Cys
ENST00000342175.11:c.81311T>G (TTN) ENSP00000340554.6:p.Phe27104Cys
ENST00000359218.10:c.81110T>G (TTN) ENSP00000352154.5:p.Phe27037Cys
ENST00000342175.10:c.81311T>G (TTN) ENSP00000340554.6:p.Phe27104Cys
ENST00000342992.10:c.100226T>G (TTN) ENSP00000343764.6:p.Phe33409Cys
ENST00000359218.9:c.81110T>G (TTN) ENSP00000352154.5:p.Phe27037Cys
ENST00000460472.6:c.80735T>G (TTN) ENSP00000434586.1:p.Phe26912Cys
ENST00000589042.5:c.107930T>G (TTN) MANE Select ENSP00000467141.1:p.Phe35977Cys
ENST00000591111.5:c.103007T>G (TTN) ENSP00000465570.1:p.Phe34336Cys
ENST00000615779.4:c.103007T>G (TTN) ENSP00000483597.1:p.Phe34336Cys
NM_001256850.1:c.103007T>G (TTN) NP_001243779.1:p.Phe34336Cys
NM_001267550.2:c.107930T>G (TTN) MANE Select NP_001254479.2:p.Phe35977Cys
NM_003319.4:c.80735T>G (TTN) NP_003310.4:p.Phe26912Cys
NM_133378.4:c.100226T>G (TTN) NP_596869.4:p.Phe33409Cys
NM_133432.3:c.81110T>G (TTN) NP_597676.3:p.Phe27037Cys
NM_133437.4:c.81311T>G (TTN) NP_597681.4:p.Phe27104Cys
NR_038271.1:n.446+3422A>C (TTN-AS1)
NR_038272.1:n.219+3422A>C (TTN-AS1)
XM_011511729.1:c.107027T>G (TTN) XP_011510031.1:p.Phe35676Cys
XM_011511730.1:c.80921T>G (TTN) XP_011510032.1:p.Phe26974Cys
XM_011511731.1:c.80780T>G (TTN) XP_011510033.1:p.Phe26927Cys
XM_017004819.1:c.106823T>G (TTN) XP_016860308.1:p.Phe35608Cys
XM_017004820.1:c.102221T>G (TTN) XP_016860309.1:p.Phe34074Cys
XM_017004821.1:c.102218T>G (TTN) XP_016860310.1:p.Phe34073Cys
XM_017004822.1:c.99260T>G (TTN) XP_016860311.1:p.Phe33087Cys
XM_017004823.1:c.80876T>G (TTN) XP_016860312.1:p.Phe26959Cys
XM_024453094.1:c.102371T>G (TTN) XP_024308862.1:p.Phe34124Cys
XM_024453095.1:c.102368T>G (TTN) XP_024308863.1:p.Phe34123Cys
XM_024453096.1:c.101801T>G (TTN) XP_024308864.1:p.Phe33934Cys
XM_024453097.1:c.99143T>G (TTN) XP_024308865.1:p.Phe33048Cys
XM_024453098.1:c.99062T>G (TTN) XP_024308866.1:p.Phe33021Cys
XM_024453099.1:c.80825T>G (TTN) XP_024308867.1:p.Phe26942Cys
XM_024453100.1:c.70679T>G (TTN) XP_024308868.1:p.Phe23560Cys