Canonical Allele Identifier: CA349398252

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100226T>C (TTN) ENSP00000343764.6:p.Phe33409Ser
ENST00000342175.11:c.81311T>C (TTN) ENSP00000340554.6:p.Phe27104Ser
ENST00000359218.10:c.81110T>C (TTN) ENSP00000352154.5:p.Phe27037Ser
ENST00000342175.10:c.81311T>C (TTN) ENSP00000340554.6:p.Phe27104Ser
ENST00000342992.10:c.100226T>C (TTN) ENSP00000343764.6:p.Phe33409Ser
ENST00000359218.9:c.81110T>C (TTN) ENSP00000352154.5:p.Phe27037Ser
ENST00000460472.6:c.80735T>C (TTN) ENSP00000434586.1:p.Phe26912Ser
ENST00000589042.5:c.107930T>C (TTN) MANE Select ENSP00000467141.1:p.Phe35977Ser
ENST00000591111.5:c.103007T>C (TTN) ENSP00000465570.1:p.Phe34336Ser
ENST00000615779.4:c.103007T>C (TTN) ENSP00000483597.1:p.Phe34336Ser
NM_001256850.1:c.103007T>C (TTN) NP_001243779.1:p.Phe34336Ser
NM_001267550.2:c.107930T>C (TTN) MANE Select NP_001254479.2:p.Phe35977Ser
NM_003319.4:c.80735T>C (TTN) NP_003310.4:p.Phe26912Ser
NM_133378.4:c.100226T>C (TTN) NP_596869.4:p.Phe33409Ser
NM_133432.3:c.81110T>C (TTN) NP_597676.3:p.Phe27037Ser
NM_133437.4:c.81311T>C (TTN) NP_597681.4:p.Phe27104Ser
NR_038271.1:n.446+3422A>G (TTN-AS1)
NR_038272.1:n.219+3422A>G (TTN-AS1)
XM_011511729.1:c.107027T>C (TTN) XP_011510031.1:p.Phe35676Ser
XM_011511730.1:c.80921T>C (TTN) XP_011510032.1:p.Phe26974Ser
XM_011511731.1:c.80780T>C (TTN) XP_011510033.1:p.Phe26927Ser
XM_017004819.1:c.106823T>C (TTN) XP_016860308.1:p.Phe35608Ser
XM_017004820.1:c.102221T>C (TTN) XP_016860309.1:p.Phe34074Ser
XM_017004821.1:c.102218T>C (TTN) XP_016860310.1:p.Phe34073Ser
XM_017004822.1:c.99260T>C (TTN) XP_016860311.1:p.Phe33087Ser
XM_017004823.1:c.80876T>C (TTN) XP_016860312.1:p.Phe26959Ser
XM_024453094.1:c.102371T>C (TTN) XP_024308862.1:p.Phe34124Ser
XM_024453095.1:c.102368T>C (TTN) XP_024308863.1:p.Phe34123Ser
XM_024453096.1:c.101801T>C (TTN) XP_024308864.1:p.Phe33934Ser
XM_024453097.1:c.99143T>C (TTN) XP_024308865.1:p.Phe33048Ser
XM_024453098.1:c.99062T>C (TTN) XP_024308866.1:p.Phe33021Ser
XM_024453099.1:c.80825T>C (TTN) XP_024308867.1:p.Phe26942Ser
XM_024453100.1:c.70679T>C (TTN) XP_024308868.1:p.Phe23560Ser