Canonical Allele Identifier: CA1985170

Linked Data

ClinVar Variation Id: 2437980
ClinVar RCV Id: RCV003137145
dbSNP Id: rs746512551

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530560G>T , CM000664.2:g.178530560G>T GRCh38
NC_000002.11:g.179395287G>T , CM000664.1:g.179395287G>T GRCh37
NC_000002.10:g.179103533G>T NCBI36
NG_011618.3:g.305243C>A , LRG_391:g.305243C>A
NG_051363.1:g.12734G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98351C>A (TTN) ENSP00000343764.6:p.Ser32784Tyr
ENST00000342175.11:c.79436C>A (TTN) ENSP00000340554.6:p.Ser26479Tyr
ENST00000359218.10:c.79235C>A (TTN) ENSP00000352154.5:p.Ser26412Tyr
ENST00000342175.10:c.79436C>A (TTN) ENSP00000340554.6:p.Ser26479Tyr
ENST00000342992.10:c.98351C>A (TTN) ENSP00000343764.6:p.Ser32784Tyr
ENST00000359218.9:c.79235C>A (TTN) ENSP00000352154.5:p.Ser26412Tyr
ENST00000460472.6:c.78860C>A (TTN) ENSP00000434586.1:p.Ser26287Tyr
ENST00000589042.5:c.106055C>A (TTN) MANE Select ENSP00000467141.1:p.Ser35352Tyr
ENST00000591111.5:c.101132C>A (TTN) ENSP00000465570.1:p.Ser33711Tyr
ENST00000615779.4:c.101132C>A (TTN) ENSP00000483597.1:p.Ser33711Tyr
NM_001256850.1:c.101132C>A (TTN) NP_001243779.1:p.Ser33711Tyr
NM_001267550.2:c.106055C>A (TTN) MANE Select NP_001254479.2:p.Ser35352Tyr
NM_003319.4:c.78860C>A (TTN) NP_003310.4:p.Ser26287Tyr
NM_133378.4:c.98351C>A (TTN) NP_596869.4:p.Ser32784Tyr
NM_133432.3:c.79235C>A (TTN) NP_597676.3:p.Ser26412Tyr
NM_133437.4:c.79436C>A (TTN) NP_597681.4:p.Ser26479Tyr
NR_038271.1:n.446+6924G>T (TTN-AS1)
NR_038272.1:n.220-5172G>T (TTN-AS1)
XM_011511729.1:c.105152C>A (TTN) XP_011510031.1:p.Ser35051Tyr
XM_011511730.1:c.79046C>A (TTN) XP_011510032.1:p.Ser26349Tyr
XM_011511731.1:c.78905C>A (TTN) XP_011510033.1:p.Ser26302Tyr
XM_017004819.1:c.104948C>A (TTN) XP_016860308.1:p.Ser34983Tyr
XM_017004820.1:c.100346C>A (TTN) XP_016860309.1:p.Ser33449Tyr
XM_017004821.1:c.100343C>A (TTN) XP_016860310.1:p.Ser33448Tyr
XM_017004822.1:c.97385C>A (TTN) XP_016860311.1:p.Ser32462Tyr
XM_017004823.1:c.79001C>A (TTN) XP_016860312.1:p.Ser26334Tyr
XM_024453094.1:c.100496C>A (TTN) XP_024308862.1:p.Ser33499Tyr
XM_024453095.1:c.100493C>A (TTN) XP_024308863.1:p.Ser33498Tyr
XM_024453096.1:c.99926C>A (TTN) XP_024308864.1:p.Ser33309Tyr
XM_024453097.1:c.97268C>A (TTN) XP_024308865.1:p.Ser32423Tyr
XM_024453098.1:c.97187C>A (TTN) XP_024308866.1:p.Ser32396Tyr
XM_024453099.1:c.78950C>A (TTN) XP_024308867.1:p.Ser26317Tyr
XM_024453100.1:c.68804C>A (TTN) XP_024308868.1:p.Ser22935Tyr