Canonical Allele Identifier: CA1988710
Community Standard Title: NM_001267550.2(TTN):c.85003T>G (p.Ser28335Ala)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178561129A>C , CM000664.2:g.178561129A>C GRCh38
NC_000002.11:g.179425856A>C , CM000664.1:g.179425856A>C GRCh37
NC_000002.10:g.179134102A>C NCBI36
NG_011618.3:g.274674T>G , LRG_391:g.274674T>G
NG_051363.1:g.43303A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85003T>G (TTN) MANE Select NP_001254479.2:p.Ser28335Ala
ENST00000589042.5:c.85003T>G (TTN) MANE Select ENSP00000467141.1:p.Ser28335Ala
NM_001256850.1:c.80080T>G (TTN) NP_001243779.1:p.Ser26694Ala
NM_003319.4:c.57808T>G (TTN) NP_003310.4:p.Ser19270Ala
NM_133378.4:c.77299T>G (TTN) NP_596869.4:p.Ser25767Ala
NM_133432.3:c.58183T>G (TTN) NP_597676.3:p.Ser19395Ala
NM_133437.4:c.58384T>G (TTN) NP_597681.4:p.Ser19462Ala
NR_038271.1:n.447-10171A>C (TTN-AS1)
NR_038272.1:n.2043+18768A>C (TTN-AS1)
ENST00000342175.10:c.58384T>G (TTN) ENSP00000340554.6:p.Ser19462Ala
ENST00000342175.11:c.58384T>G (TTN) ENSP00000340554.6:p.Ser19462Ala
ENST00000342992.10:c.77299T>G (TTN) ENSP00000343764.6:p.Ser25767Ala
ENST00000342992.11:c.77299T>G (TTN) ENSP00000343764.6:p.Ser25767Ala
ENST00000359218.10:c.58183T>G (TTN) ENSP00000352154.5:p.Ser19395Ala
ENST00000359218.9:c.58183T>G (TTN) ENSP00000352154.5:p.Ser19395Ala
ENST00000460472.6:c.57808T>G (TTN) ENSP00000434586.1:p.Ser19270Ala
ENST00000591111.5:c.80080T>G (TTN) ENSP00000465570.1:p.Ser26694Ala
ENST00000615779.4:c.80080T>G (TTN) ENSP00000483597.1:p.Ser26694Ala
XM_011511729.1:c.84100T>G (TTN) XP_011510031.1:p.Ser28034Ala
XM_011511730.1:c.57994T>G (TTN) XP_011510032.1:p.Ser19332Ala
XM_011511731.1:c.57853T>G (TTN) XP_011510033.1:p.Ser19285Ala
XM_017004819.1:c.83896T>G (TTN) XP_016860308.1:p.Ser27966Ala
XM_017004820.1:c.79294T>G (TTN) XP_016860309.1:p.Ser26432Ala
XM_017004821.1:c.79291T>G (TTN) XP_016860310.1:p.Ser26431Ala
XM_017004822.1:c.76333T>G (TTN) XP_016860311.1:p.Ser25445Ala
XM_017004823.1:c.57949T>G (TTN) XP_016860312.1:p.Ser19317Ala
XM_024453094.1:c.79444T>G (TTN) XP_024308862.1:p.Ser26482Ala
XM_024453095.1:c.79441T>G (TTN) XP_024308863.1:p.Ser26481Ala
XM_024453096.1:c.78874T>G (TTN) XP_024308864.1:p.Ser26292Ala
XM_024453097.1:c.76216T>G (TTN) XP_024308865.1:p.Ser25406Ala
XM_024453098.1:c.76135T>G (TTN) XP_024308866.1:p.Ser25379Ala
XM_024453099.1:c.57898T>G (TTN) XP_024308867.1:p.Ser19300Ala
XM_024453100.1:c.47752T>G (TTN) XP_024308868.1:p.Ser15918Ala