Canonical Allele Identifier: CA273679

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178578835G>T , CM000664.2:g.178578835G>T GRCh38
NC_000002.11:g.179443562G>T , CM000664.1:g.179443562G>T GRCh37
NC_000002.10:g.179151808G>T NCBI36
NG_011618.3:g.256968C>A , LRG_391:g.256968C>A
NG_051363.1:g.61009G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.68195C>A (TTN) MANE Select NP_001254479.2:p.Ser22732Ter
ENST00000589042.5:c.68195C>A (TTN) MANE Select ENSP00000467141.1:p.Ser22732Ter
NM_001256850.1:c.63272C>A (TTN) NP_001243779.1:p.Ser21091Ter
NM_003319.4:c.41000C>A (TTN) NP_003310.4:p.Ser13667Ter
NM_133378.4:c.60491C>A (TTN) NP_596869.4:p.Ser20164Ter
NM_133432.3:c.41375C>A (TTN) NP_597676.3:p.Ser13792Ter
NM_133437.4:c.41576C>A (TTN) NP_597681.4:p.Ser13859Ter
NR_038271.1:n.596+7386G>T (TTN-AS1)
NR_038272.1:n.2044-3737G>T (TTN-AS1)
ENST00000342175.10:c.41576C>A (TTN) ENSP00000340554.6:p.Ser13859Ter
ENST00000342175.11:c.41576C>A (TTN) ENSP00000340554.6:p.Ser13859Ter
ENST00000342992.10:c.60491C>A (TTN) ENSP00000343764.6:p.Ser20164Ter
ENST00000342992.11:c.60491C>A (TTN) ENSP00000343764.6:p.Ser20164Ter
ENST00000359218.10:c.41375C>A (TTN) ENSP00000352154.5:p.Ser13792Ter
ENST00000359218.9:c.41375C>A (TTN) ENSP00000352154.5:p.Ser13792Ter
ENST00000460472.6:c.41000C>A (TTN) ENSP00000434586.1:p.Ser13667Ter
ENST00000591111.5:c.63272C>A (TTN) ENSP00000465570.1:p.Ser21091Ter
ENST00000615779.4:c.63272C>A (TTN) ENSP00000483597.1:p.Ser21091Ter
XM_011511729.1:c.67292C>A (TTN) XP_011510031.1:p.Ser22431Ter
XM_011511730.1:c.41186C>A (TTN) XP_011510032.1:p.Ser13729Ter
XM_011511731.1:c.41045C>A (TTN) XP_011510033.1:p.Ser13682Ter
XM_017004819.1:c.67088C>A (TTN) XP_016860308.1:p.Ser22363Ter
XM_017004820.1:c.62486C>A (TTN) XP_016860309.1:p.Ser20829Ter
XM_017004821.1:c.62483C>A (TTN) XP_016860310.1:p.Ser20828Ter
XM_017004822.1:c.59525C>A (TTN) XP_016860311.1:p.Ser19842Ter
XM_017004823.1:c.41141C>A (TTN) XP_016860312.1:p.Ser13714Ter
XM_024453094.1:c.62636C>A (TTN) XP_024308862.1:p.Ser20879Ter
XM_024453095.1:c.62633C>A (TTN) XP_024308863.1:p.Ser20878Ter
XM_024453096.1:c.62066C>A (TTN) XP_024308864.1:p.Ser20689Ter
XM_024453097.1:c.59408C>A (TTN) XP_024308865.1:p.Ser19803Ter
XM_024453098.1:c.59327C>A (TTN) XP_024308866.1:p.Ser19776Ter
XM_024453099.1:c.41090C>A (TTN) XP_024308867.1:p.Ser13697Ter
XM_024453100.1:c.30944C>A (TTN) XP_024308868.1:p.Ser10315Ter