Canonical Allele Identifier: CA349564261

Linked Data

dbSNP Id: rs1703965832

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562313T>G , CM000664.2:g.178562313T>G GRCh38
NC_000002.11:g.179427040T>G , CM000664.1:g.179427040T>G GRCh37
NC_000002.10:g.179135286T>G NCBI36
NG_011618.3:g.273490A>C , LRG_391:g.273490A>C
NG_051363.1:g.44487T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.76115A>C (TTN) ENSP00000343764.6:p.Asn25372Thr
ENST00000342175.11:c.57200A>C (TTN) ENSP00000340554.6:p.Asn19067Thr
ENST00000359218.10:c.56999A>C (TTN) ENSP00000352154.5:p.Asn19000Thr
ENST00000342175.10:c.57200A>C (TTN) ENSP00000340554.6:p.Asn19067Thr
ENST00000342992.10:c.76115A>C (TTN) ENSP00000343764.6:p.Asn25372Thr
ENST00000359218.9:c.56999A>C (TTN) ENSP00000352154.5:p.Asn19000Thr
ENST00000460472.6:c.56624A>C (TTN) ENSP00000434586.1:p.Asn18875Thr
ENST00000589042.5:c.83819A>C (TTN) MANE Select ENSP00000467141.1:p.Asn27940Thr
ENST00000591111.5:c.78896A>C (TTN) ENSP00000465570.1:p.Asn26299Thr
ENST00000615779.4:c.78896A>C (TTN) ENSP00000483597.1:p.Asn26299Thr
NM_001256850.1:c.78896A>C (TTN) NP_001243779.1:p.Asn26299Thr
NM_001267550.2:c.83819A>C (TTN) MANE Select NP_001254479.2:p.Asn27940Thr
NM_003319.4:c.56624A>C (TTN) NP_003310.4:p.Asn18875Thr
NM_133378.4:c.76115A>C (TTN) NP_596869.4:p.Asn25372Thr
NM_133432.3:c.56999A>C (TTN) NP_597676.3:p.Asn19000Thr
NM_133437.4:c.57200A>C (TTN) NP_597681.4:p.Asn19067Thr
NR_038271.1:n.447-8987T>G (TTN-AS1)
NR_038272.1:n.2043+19952T>G (TTN-AS1)
XM_011511729.1:c.82916A>C (TTN) XP_011510031.1:p.Asn27639Thr
XM_011511730.1:c.56810A>C (TTN) XP_011510032.1:p.Asn18937Thr
XM_011511731.1:c.56669A>C (TTN) XP_011510033.1:p.Asn18890Thr
XM_017004819.1:c.82712A>C (TTN) XP_016860308.1:p.Asn27571Thr
XM_017004820.1:c.78110A>C (TTN) XP_016860309.1:p.Asn26037Thr
XM_017004821.1:c.78107A>C (TTN) XP_016860310.1:p.Asn26036Thr
XM_017004822.1:c.75149A>C (TTN) XP_016860311.1:p.Asn25050Thr
XM_017004823.1:c.56765A>C (TTN) XP_016860312.1:p.Asn18922Thr
XM_024453094.1:c.78260A>C (TTN) XP_024308862.1:p.Asn26087Thr
XM_024453095.1:c.78257A>C (TTN) XP_024308863.1:p.Asn26086Thr
XM_024453096.1:c.77690A>C (TTN) XP_024308864.1:p.Asn25897Thr
XM_024453097.1:c.75032A>C (TTN) XP_024308865.1:p.Asn25011Thr
XM_024453098.1:c.74951A>C (TTN) XP_024308866.1:p.Asn24984Thr
XM_024453099.1:c.56714A>C (TTN) XP_024308867.1:p.Asn18905Thr
XM_024453100.1:c.46568A>C (TTN) XP_024308868.1:p.Asn15523Thr