Canonical Allele Identifier: CA349411793

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532207G>A , CM000664.2:g.178532207G>A GRCh38
NC_000002.11:g.179396934G>A , CM000664.1:g.179396934G>A GRCh37
NC_000002.10:g.179105180G>A NCBI36
NG_011618.3:g.303596C>T , LRG_391:g.303596C>T
NG_051363.1:g.14381G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96704C>T (TTN) ENSP00000343764.6:p.Ser32235Leu
ENST00000342175.11:c.77789C>T (TTN) ENSP00000340554.6:p.Ser25930Leu
ENST00000359218.10:c.77588C>T (TTN) ENSP00000352154.5:p.Ser25863Leu
ENST00000342175.10:c.77789C>T (TTN) ENSP00000340554.6:p.Ser25930Leu
ENST00000342992.10:c.96704C>T (TTN) ENSP00000343764.6:p.Ser32235Leu
ENST00000359218.9:c.77588C>T (TTN) ENSP00000352154.5:p.Ser25863Leu
ENST00000460472.6:c.77213C>T (TTN) ENSP00000434586.1:p.Ser25738Leu
ENST00000589042.5:c.104408C>T (TTN) MANE Select ENSP00000467141.1:p.Ser34803Leu
ENST00000591111.5:c.99485C>T (TTN) ENSP00000465570.1:p.Ser33162Leu
ENST00000615779.4:c.99485C>T (TTN) ENSP00000483597.1:p.Ser33162Leu
NM_001256850.1:c.99485C>T (TTN) NP_001243779.1:p.Ser33162Leu
NM_001267550.2:c.104408C>T (TTN) MANE Select NP_001254479.2:p.Ser34803Leu
NM_003319.4:c.77213C>T (TTN) NP_003310.4:p.Ser25738Leu
NM_133378.4:c.96704C>T (TTN) NP_596869.4:p.Ser32235Leu
NM_133432.3:c.77588C>T (TTN) NP_597676.3:p.Ser25863Leu
NM_133437.4:c.77789C>T (TTN) NP_597681.4:p.Ser25930Leu
NR_038271.1:n.446+8571G>A (TTN-AS1)
NR_038272.1:n.220-3525G>A (TTN-AS1)
XM_011511729.1:c.103505C>T (TTN) XP_011510031.1:p.Ser34502Leu
XM_011511730.1:c.77399C>T (TTN) XP_011510032.1:p.Ser25800Leu
XM_011511731.1:c.77258C>T (TTN) XP_011510033.1:p.Ser25753Leu
XM_017004819.1:c.103301C>T (TTN) XP_016860308.1:p.Ser34434Leu
XM_017004820.1:c.98699C>T (TTN) XP_016860309.1:p.Ser32900Leu
XM_017004821.1:c.98696C>T (TTN) XP_016860310.1:p.Ser32899Leu
XM_017004822.1:c.95738C>T (TTN) XP_016860311.1:p.Ser31913Leu
XM_017004823.1:c.77354C>T (TTN) XP_016860312.1:p.Ser25785Leu
XM_024453094.1:c.98849C>T (TTN) XP_024308862.1:p.Ser32950Leu
XM_024453095.1:c.98846C>T (TTN) XP_024308863.1:p.Ser32949Leu
XM_024453096.1:c.98279C>T (TTN) XP_024308864.1:p.Ser32760Leu
XM_024453097.1:c.95621C>T (TTN) XP_024308865.1:p.Ser31874Leu
XM_024453098.1:c.95540C>T (TTN) XP_024308866.1:p.Ser31847Leu
XM_024453099.1:c.77303C>T (TTN) XP_024308867.1:p.Ser25768Leu
XM_024453100.1:c.67157C>T (TTN) XP_024308868.1:p.Ser22386Leu