Canonical Allele Identifier: CA430265009
Community Standard Title: NM_001267550.2(TTN):c.62901T>C (p.Pro20967=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178588824A>G , CM000664.2:g.178588824A>G GRCh38
NC_000002.11:g.179453551A>G , CM000664.1:g.179453551A>G GRCh37
NC_000002.10:g.179161797A>G NCBI36
NG_011618.3:g.246979T>C , LRG_391:g.246979T>C
NG_051363.1:g.70998A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.62901T>C (TTN) MANE Select NP_001254479.2:p.Pro20967=
ENST00000589042.5:c.62901T>C (TTN) MANE Select ENSP00000467141.1:p.Pro20967=
NM_001256850.1:c.57978T>C (TTN) NP_001243779.1:p.Pro19326=
NM_003319.4:c.35706T>C (TTN) NP_003310.4:p.Pro11902=
NM_133378.4:c.55197T>C (TTN) NP_596869.4:p.Pro18399=
NM_133432.3:c.36081T>C (TTN) NP_597676.3:p.Pro12027=
NM_133437.4:c.36282T>C (TTN) NP_597681.4:p.Pro12094=
NR_038271.1:n.597-8772A>G (TTN-AS1)
NR_038272.1:n.3189-2315A>G (TTN-AS1)
ENST00000342175.10:c.36282T>C (TTN) ENSP00000340554.6:p.Pro12094=
ENST00000342175.11:c.36282T>C (TTN) ENSP00000340554.6:p.Pro12094=
ENST00000342992.10:c.55197T>C (TTN) ENSP00000343764.6:p.Pro18399=
ENST00000342992.11:c.55197T>C (TTN) ENSP00000343764.6:p.Pro18399=
ENST00000359218.10:c.36081T>C (TTN) ENSP00000352154.5:p.Pro12027=
ENST00000359218.9:c.36081T>C (TTN) ENSP00000352154.5:p.Pro12027=
ENST00000460472.6:c.35706T>C (TTN) ENSP00000434586.1:p.Pro11902=
ENST00000591111.5:c.57978T>C (TTN) ENSP00000465570.1:p.Pro19326=
ENST00000615779.4:c.57978T>C (TTN) ENSP00000483597.1:p.Pro19326=
XM_011511729.1:c.61998T>C (TTN) XP_011510031.1:p.Pro20666=
XM_011511730.1:c.35892T>C (TTN) XP_011510032.1:p.Pro11964=
XM_011511731.1:c.35751T>C (TTN) XP_011510033.1:p.Pro11917=
XM_017004819.1:c.61794T>C (TTN) XP_016860308.1:p.Pro20598=
XM_017004820.1:c.57192T>C (TTN) XP_016860309.1:p.Pro19064=
XM_017004821.1:c.57189T>C (TTN) XP_016860310.1:p.Pro19063=
XM_017004822.1:c.54231T>C (TTN) XP_016860311.1:p.Pro18077=
XM_017004823.1:c.35847T>C (TTN) XP_016860312.1:p.Pro11949=
XM_024453094.1:c.57342T>C (TTN) XP_024308862.1:p.Pro19114=
XM_024453095.1:c.57339T>C (TTN) XP_024308863.1:p.Pro19113=
XM_024453096.1:c.56772T>C (TTN) XP_024308864.1:p.Pro18924=
XM_024453097.1:c.54114T>C (TTN) XP_024308865.1:p.Pro18038=
XM_024453098.1:c.54033T>C (TTN) XP_024308866.1:p.Pro18011=
XM_024453099.1:c.35796T>C (TTN) XP_024308867.1:p.Pro11932=
XM_024453100.1:c.25650T>C (TTN) XP_024308868.1:p.Pro8550=