Canonical Allele Identifier: CA349664577

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178575981T>C , CM000664.2:g.178575981T>C GRCh38
NC_000002.11:g.179440708T>C , CM000664.1:g.179440708T>C GRCh37
NC_000002.10:g.179148954T>C NCBI36
NG_011618.3:g.259822A>G , LRG_391:g.259822A>G
NG_051363.1:g.58155T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.62447A>G (TTN) ENSP00000343764.6:p.Asn20816Ser
ENST00000342175.11:c.43532A>G (TTN) ENSP00000340554.6:p.Asn14511Ser
ENST00000359218.10:c.43331A>G (TTN) ENSP00000352154.5:p.Asn14444Ser
ENST00000342175.10:c.43532A>G (TTN) ENSP00000340554.6:p.Asn14511Ser
ENST00000342992.10:c.62447A>G (TTN) ENSP00000343764.6:p.Asn20816Ser
ENST00000359218.9:c.43331A>G (TTN) ENSP00000352154.5:p.Asn14444Ser
ENST00000460472.6:c.42956A>G (TTN) ENSP00000434586.1:p.Asn14319Ser
ENST00000589042.5:c.70151A>G (TTN) MANE Select ENSP00000467141.1:p.Asn23384Ser
ENST00000591111.5:c.65228A>G (TTN) ENSP00000465570.1:p.Asn21743Ser
ENST00000615779.4:c.65228A>G (TTN) ENSP00000483597.1:p.Asn21743Ser
NM_001256850.1:c.65228A>G (TTN) NP_001243779.1:p.Asn21743Ser
NM_001267550.2:c.70151A>G (TTN) MANE Select NP_001254479.2:p.Asn23384Ser
NM_003319.4:c.42956A>G (TTN) NP_003310.4:p.Asn14319Ser
NM_133378.4:c.62447A>G (TTN) NP_596869.4:p.Asn20816Ser
NM_133432.3:c.43331A>G (TTN) NP_597676.3:p.Asn14444Ser
NM_133437.4:c.43532A>G (TTN) NP_597681.4:p.Asn14511Ser
NR_038271.1:n.596+4532T>C (TTN-AS1)
NR_038272.1:n.2044-6591T>C (TTN-AS1)
XM_011511729.1:c.69248A>G (TTN) XP_011510031.1:p.Asn23083Ser
XM_011511730.1:c.43142A>G (TTN) XP_011510032.1:p.Asn14381Ser
XM_011511731.1:c.43001A>G (TTN) XP_011510033.1:p.Asn14334Ser
XM_017004819.1:c.69044A>G (TTN) XP_016860308.1:p.Asn23015Ser
XM_017004820.1:c.64442A>G (TTN) XP_016860309.1:p.Asn21481Ser
XM_017004821.1:c.64439A>G (TTN) XP_016860310.1:p.Asn21480Ser
XM_017004822.1:c.61481A>G (TTN) XP_016860311.1:p.Asn20494Ser
XM_017004823.1:c.43097A>G (TTN) XP_016860312.1:p.Asn14366Ser
XM_024453094.1:c.64592A>G (TTN) XP_024308862.1:p.Asn21531Ser
XM_024453095.1:c.64589A>G (TTN) XP_024308863.1:p.Asn21530Ser
XM_024453096.1:c.64022A>G (TTN) XP_024308864.1:p.Asn21341Ser
XM_024453097.1:c.61364A>G (TTN) XP_024308865.1:p.Asn20455Ser
XM_024453098.1:c.61283A>G (TTN) XP_024308866.1:p.Asn20428Ser
XM_024453099.1:c.43046A>G (TTN) XP_024308867.1:p.Asn14349Ser
XM_024453100.1:c.32900A>G (TTN) XP_024308868.1:p.Asn10967Ser