Canonical Allele Identifier: CA349411551

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532120G>A , CM000664.2:g.178532120G>A GRCh38
NC_000002.11:g.179396847G>A , CM000664.1:g.179396847G>A GRCh37
NC_000002.10:g.179105093G>A NCBI36
NG_011618.3:g.303683C>T , LRG_391:g.303683C>T
NG_051363.1:g.14294G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96791C>T (TTN) ENSP00000343764.6:p.Ser32264Phe
ENST00000342175.11:c.77876C>T (TTN) ENSP00000340554.6:p.Ser25959Phe
ENST00000359218.10:c.77675C>T (TTN) ENSP00000352154.5:p.Ser25892Phe
ENST00000342175.10:c.77876C>T (TTN) ENSP00000340554.6:p.Ser25959Phe
ENST00000342992.10:c.96791C>T (TTN) ENSP00000343764.6:p.Ser32264Phe
ENST00000359218.9:c.77675C>T (TTN) ENSP00000352154.5:p.Ser25892Phe
ENST00000460472.6:c.77300C>T (TTN) ENSP00000434586.1:p.Ser25767Phe
ENST00000589042.5:c.104495C>T (TTN) MANE Select ENSP00000467141.1:p.Ser34832Phe
ENST00000591111.5:c.99572C>T (TTN) ENSP00000465570.1:p.Ser33191Phe
ENST00000615779.4:c.99572C>T (TTN) ENSP00000483597.1:p.Ser33191Phe
NM_001256850.1:c.99572C>T (TTN) NP_001243779.1:p.Ser33191Phe
NM_001267550.2:c.104495C>T (TTN) MANE Select NP_001254479.2:p.Ser34832Phe
NM_003319.4:c.77300C>T (TTN) NP_003310.4:p.Ser25767Phe
NM_133378.4:c.96791C>T (TTN) NP_596869.4:p.Ser32264Phe
NM_133432.3:c.77675C>T (TTN) NP_597676.3:p.Ser25892Phe
NM_133437.4:c.77876C>T (TTN) NP_597681.4:p.Ser25959Phe
NR_038271.1:n.446+8484G>A (TTN-AS1)
NR_038272.1:n.220-3612G>A (TTN-AS1)
XM_011511729.1:c.103592C>T (TTN) XP_011510031.1:p.Ser34531Phe
XM_011511730.1:c.77486C>T (TTN) XP_011510032.1:p.Ser25829Phe
XM_011511731.1:c.77345C>T (TTN) XP_011510033.1:p.Ser25782Phe
XM_017004819.1:c.103388C>T (TTN) XP_016860308.1:p.Ser34463Phe
XM_017004820.1:c.98786C>T (TTN) XP_016860309.1:p.Ser32929Phe
XM_017004821.1:c.98783C>T (TTN) XP_016860310.1:p.Ser32928Phe
XM_017004822.1:c.95825C>T (TTN) XP_016860311.1:p.Ser31942Phe
XM_017004823.1:c.77441C>T (TTN) XP_016860312.1:p.Ser25814Phe
XM_024453094.1:c.98936C>T (TTN) XP_024308862.1:p.Ser32979Phe
XM_024453095.1:c.98933C>T (TTN) XP_024308863.1:p.Ser32978Phe
XM_024453096.1:c.98366C>T (TTN) XP_024308864.1:p.Ser32789Phe
XM_024453097.1:c.95708C>T (TTN) XP_024308865.1:p.Ser31903Phe
XM_024453098.1:c.95627C>T (TTN) XP_024308866.1:p.Ser31876Phe
XM_024453099.1:c.77390C>T (TTN) XP_024308867.1:p.Ser25797Phe
XM_024453100.1:c.67244C>T (TTN) XP_024308868.1:p.Ser22415Phe