Canonical Allele Identifier: CA349510900

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552476T>A , CM000664.2:g.178552476T>A GRCh38
NC_000002.11:g.179417203T>A , CM000664.1:g.179417203T>A GRCh37
NC_000002.10:g.179125449T>A NCBI36
NG_011618.3:g.283327A>T , LRG_391:g.283327A>T
NG_051363.1:g.34650T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82720A>T (TTN) ENSP00000343764.6:p.Thr27574Ser
ENST00000342175.11:c.63805A>T (TTN) ENSP00000340554.6:p.Thr21269Ser
ENST00000359218.10:c.63604A>T (TTN) ENSP00000352154.5:p.Thr21202Ser
ENST00000342175.10:c.63805A>T (TTN) ENSP00000340554.6:p.Thr21269Ser
ENST00000342992.10:c.82720A>T (TTN) ENSP00000343764.6:p.Thr27574Ser
ENST00000359218.9:c.63604A>T (TTN) ENSP00000352154.5:p.Thr21202Ser
ENST00000460472.6:c.63229A>T (TTN) ENSP00000434586.1:p.Thr21077Ser
ENST00000589042.5:c.90424A>T (TTN) MANE Select ENSP00000467141.1:p.Thr30142Ser
ENST00000591111.5:c.85501A>T (TTN) ENSP00000465570.1:p.Thr28501Ser
ENST00000615779.4:c.85501A>T (TTN) ENSP00000483597.1:p.Thr28501Ser
NM_001256850.1:c.85501A>T (TTN) NP_001243779.1:p.Thr28501Ser
NM_001267550.2:c.90424A>T (TTN) MANE Select NP_001254479.2:p.Thr30142Ser
NM_003319.4:c.63229A>T (TTN) NP_003310.4:p.Thr21077Ser
NM_133378.4:c.82720A>T (TTN) NP_596869.4:p.Thr27574Ser
NM_133432.3:c.63604A>T (TTN) NP_597676.3:p.Thr21202Ser
NM_133437.4:c.63805A>T (TTN) NP_597681.4:p.Thr21269Ser
NR_038271.1:n.447-18824T>A (TTN-AS1)
NR_038272.1:n.2043+10115T>A (TTN-AS1)
XM_011511729.1:c.89521A>T (TTN) XP_011510031.1:p.Thr29841Ser
XM_011511730.1:c.63415A>T (TTN) XP_011510032.1:p.Thr21139Ser
XM_011511731.1:c.63274A>T (TTN) XP_011510033.1:p.Thr21092Ser
XM_017004819.1:c.89317A>T (TTN) XP_016860308.1:p.Thr29773Ser
XM_017004820.1:c.84715A>T (TTN) XP_016860309.1:p.Thr28239Ser
XM_017004821.1:c.84712A>T (TTN) XP_016860310.1:p.Thr28238Ser
XM_017004822.1:c.81754A>T (TTN) XP_016860311.1:p.Thr27252Ser
XM_017004823.1:c.63370A>T (TTN) XP_016860312.1:p.Thr21124Ser
XM_024453094.1:c.84865A>T (TTN) XP_024308862.1:p.Thr28289Ser
XM_024453095.1:c.84862A>T (TTN) XP_024308863.1:p.Thr28288Ser
XM_024453096.1:c.84295A>T (TTN) XP_024308864.1:p.Thr28099Ser
XM_024453097.1:c.81637A>T (TTN) XP_024308865.1:p.Thr27213Ser
XM_024453098.1:c.81556A>T (TTN) XP_024308866.1:p.Thr27186Ser
XM_024453099.1:c.63319A>T (TTN) XP_024308867.1:p.Thr21107Ser
XM_024453100.1:c.53173A>T (TTN) XP_024308868.1:p.Thr17725Ser