Canonical Allele Identifier: CA183679

Linked Data

ClinVar Variation Id: 179078
dbSNP Id: rs727504609

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530494A>T , CM000664.2:g.178530494A>T GRCh38
NC_000002.11:g.179395221A>T , CM000664.1:g.179395221A>T GRCh37
NC_000002.10:g.179103467A>T NCBI36
NG_011618.3:g.305309T>A , LRG_391:g.305309T>A
NG_051363.1:g.12668A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.79502T>A ENSP00000340554.6:p.Phe26501Tyr
ENST00000359218.10:n.79301T>A ENSP00000352154.5:p.Phe26434Tyr
ENST00000342175.10:c.79502T>A ENSP00000340554.6:p.Phe26501Tyr
ENST00000342992.10:c.98417T>A ENSP00000343764.6:p.Phe32806Tyr
ENST00000359218.9:c.79301T>A ENSP00000352154.5:p.Phe26434Tyr
ENST00000460472.6:c.78926T>A ENSP00000434586.1:p.Phe26309Tyr
ENST00000589042.5:c.106121T>A (TTN) MANE Select ENSP00000467141.1:p.Phe35374Tyr
ENST00000591111.5:c.101198T>A ENSP00000465570.1:p.Phe33733Tyr
ENST00000615779.4:c.101198T>A ENSP00000483597.1:p.Phe33733Tyr
NM_001256850.1:c.101198T>A (TTN) NP_001243779.1:p.Phe33733Tyr
NM_001267550.2:c.106121T>A (TTN) MANE Select NP_001254479.2:p.Phe35374Tyr
NM_003319.4:c.78926T>A (TTN) NP_003310.4:p.Phe26309Tyr
NM_133378.4:c.98417T>A (TTN) NP_596869.4:p.Phe32806Tyr
NM_133432.3:c.79301T>A (TTN) NP_597676.3:p.Phe26434Tyr
NM_133437.4:c.79502T>A (TTN) NP_597681.4:p.Phe26501Tyr
NR_038271.1:n.446+6858A>T (TTN-AS1)
NR_038272.1:n.220-5238A>T (TTN-AS1)
XM_011511729.1:c.105218T>A (TTN) XP_011510031.1:p.Phe35073Tyr
XM_011511730.1:c.79112T>A (TTN) XP_011510032.1:p.Phe26371Tyr
XM_011511731.1:c.78971T>A (TTN) XP_011510033.1:p.Phe26324Tyr
XM_017004819.1:c.105014T>A (TTN) XP_016860308.1:p.Phe35005Tyr
XM_017004820.1:c.100412T>A (TTN) XP_016860309.1:p.Phe33471Tyr
XM_017004821.1:c.100409T>A (TTN) XP_016860310.1:p.Phe33470Tyr
XM_017004822.1:c.97451T>A (TTN) XP_016860311.1:p.Phe32484Tyr
XM_017004823.1:c.79067T>A (TTN) XP_016860312.1:p.Phe26356Tyr
XM_024453094.1:c.100562T>A (TTN) XP_024308862.1:p.Phe33521Tyr
XM_024453095.1:c.100559T>A (TTN) XP_024308863.1:p.Phe33520Tyr
XM_024453096.1:c.99992T>A (TTN) XP_024308864.1:p.Phe33331Tyr
XM_024453097.1:c.97334T>A (TTN) XP_024308865.1:p.Phe32445Tyr
XM_024453098.1:c.97253T>A (TTN) XP_024308866.1:p.Phe32418Tyr
XM_024453099.1:c.79016T>A (TTN) XP_024308867.1:p.Phe26339Tyr
XM_024453100.1:c.68870T>A (TTN) XP_024308868.1:p.Phe22957Tyr