Canonical Allele Identifier: CA349407298

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530634C>A , CM000664.2:g.178530634C>A GRCh38
NC_000002.11:g.179395361C>A , CM000664.1:g.179395361C>A GRCh37
NC_000002.10:g.179103607C>A NCBI36
NG_011618.3:g.305169G>T , LRG_391:g.305169G>T
NG_051363.1:g.12808C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98277G>T (TTN) ENSP00000343764.6:p.Lys32759Asn
ENST00000342175.11:c.79362G>T (TTN) ENSP00000340554.6:p.Lys26454Asn
ENST00000359218.10:c.79161G>T (TTN) ENSP00000352154.5:p.Lys26387Asn
ENST00000342175.10:c.79362G>T (TTN) ENSP00000340554.6:p.Lys26454Asn
ENST00000342992.10:c.98277G>T (TTN) ENSP00000343764.6:p.Lys32759Asn
ENST00000359218.9:c.79161G>T (TTN) ENSP00000352154.5:p.Lys26387Asn
ENST00000460472.6:c.78786G>T (TTN) ENSP00000434586.1:p.Lys26262Asn
ENST00000589042.5:c.105981G>T (TTN) MANE Select ENSP00000467141.1:p.Lys35327Asn
ENST00000591111.5:c.101058G>T (TTN) ENSP00000465570.1:p.Lys33686Asn
ENST00000615779.4:c.101058G>T (TTN) ENSP00000483597.1:p.Lys33686Asn
NM_001256850.1:c.101058G>T (TTN) NP_001243779.1:p.Lys33686Asn
NM_001267550.2:c.105981G>T (TTN) MANE Select NP_001254479.2:p.Lys35327Asn
NM_003319.4:c.78786G>T (TTN) NP_003310.4:p.Lys26262Asn
NM_133378.4:c.98277G>T (TTN) NP_596869.4:p.Lys32759Asn
NM_133432.3:c.79161G>T (TTN) NP_597676.3:p.Lys26387Asn
NM_133437.4:c.79362G>T (TTN) NP_597681.4:p.Lys26454Asn
NR_038271.1:n.446+6998C>A (TTN-AS1)
NR_038272.1:n.220-5098C>A (TTN-AS1)
XM_011511729.1:c.105078G>T (TTN) XP_011510031.1:p.Lys35026Asn
XM_011511730.1:c.78972G>T (TTN) XP_011510032.1:p.Lys26324Asn
XM_011511731.1:c.78831G>T (TTN) XP_011510033.1:p.Lys26277Asn
XM_017004819.1:c.104874G>T (TTN) XP_016860308.1:p.Lys34958Asn
XM_017004820.1:c.100272G>T (TTN) XP_016860309.1:p.Lys33424Asn
XM_017004821.1:c.100269G>T (TTN) XP_016860310.1:p.Lys33423Asn
XM_017004822.1:c.97311G>T (TTN) XP_016860311.1:p.Lys32437Asn
XM_017004823.1:c.78927G>T (TTN) XP_016860312.1:p.Lys26309Asn
XM_024453094.1:c.100422G>T (TTN) XP_024308862.1:p.Lys33474Asn
XM_024453095.1:c.100419G>T (TTN) XP_024308863.1:p.Lys33473Asn
XM_024453096.1:c.99852G>T (TTN) XP_024308864.1:p.Lys33284Asn
XM_024453097.1:c.97194G>T (TTN) XP_024308865.1:p.Lys32398Asn
XM_024453098.1:c.97113G>T (TTN) XP_024308866.1:p.Lys32371Asn
XM_024453099.1:c.78876G>T (TTN) XP_024308867.1:p.Lys26292Asn
XM_024453100.1:c.68730G>T (TTN) XP_024308868.1:p.Lys22910Asn