Canonical Allele Identifier: CA60988258
Community Standard Title: NM_001267550.2(TTN):c.81393A>G (p.Lys27131=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178564739T>C , CM000664.2:g.178564739T>C GRCh38
NC_000002.11:g.179429466T>C , CM000664.1:g.179429466T>C GRCh37
NC_000002.10:g.179137712T>C NCBI36
NG_011618.3:g.271064A>G , LRG_391:g.271064A>G
NG_051363.1:g.46913T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.81393A>G (TTN) MANE Select NP_001254479.2:p.Lys27131=
ENST00000589042.5:c.81393A>G (TTN) MANE Select ENSP00000467141.1:p.Lys27131=
NM_001256850.1:c.76470A>G (TTN) NP_001243779.1:p.Lys25490=
NM_003319.4:c.54198A>G (TTN) NP_003310.4:p.Lys18066=
NM_133378.4:c.73689A>G (TTN) NP_596869.4:p.Lys24563=
NM_133432.3:c.54573A>G (TTN) NP_597676.3:p.Lys18191=
NM_133437.4:c.54774A>G (TTN) NP_597681.4:p.Lys18258=
NR_038271.1:n.447-6561T>C (TTN-AS1)
NR_038272.1:n.2044-17833T>C (TTN-AS1)
ENST00000342175.10:c.54774A>G (TTN) ENSP00000340554.6:p.Lys18258=
ENST00000342175.11:c.54774A>G (TTN) ENSP00000340554.6:p.Lys18258=
ENST00000342992.10:c.73689A>G (TTN) ENSP00000343764.6:p.Lys24563=
ENST00000342992.11:c.73689A>G (TTN) ENSP00000343764.6:p.Lys24563=
ENST00000359218.10:c.54573A>G (TTN) ENSP00000352154.5:p.Lys18191=
ENST00000359218.9:c.54573A>G (TTN) ENSP00000352154.5:p.Lys18191=
ENST00000460472.6:c.54198A>G (TTN) ENSP00000434586.1:p.Lys18066=
ENST00000591111.5:c.76470A>G (TTN) ENSP00000465570.1:p.Lys25490=
ENST00000615779.4:c.76470A>G (TTN) ENSP00000483597.1:p.Lys25490=
XM_011511729.1:c.80490A>G (TTN) XP_011510031.1:p.Lys26830=
XM_011511730.1:c.54384A>G (TTN) XP_011510032.1:p.Lys18128=
XM_011511731.1:c.54243A>G (TTN) XP_011510033.1:p.Lys18081=
XM_017004819.1:c.80286A>G (TTN) XP_016860308.1:p.Lys26762=
XM_017004820.1:c.75684A>G (TTN) XP_016860309.1:p.Lys25228=
XM_017004821.1:c.75681A>G (TTN) XP_016860310.1:p.Lys25227=
XM_017004822.1:c.72723A>G (TTN) XP_016860311.1:p.Lys24241=
XM_017004823.1:c.54339A>G (TTN) XP_016860312.1:p.Lys18113=
XM_024453094.1:c.75834A>G (TTN) XP_024308862.1:p.Lys25278=
XM_024453095.1:c.75831A>G (TTN) XP_024308863.1:p.Lys25277=
XM_024453096.1:c.75264A>G (TTN) XP_024308864.1:p.Lys25088=
XM_024453097.1:c.72606A>G (TTN) XP_024308865.1:p.Lys24202=
XM_024453098.1:c.72525A>G (TTN) XP_024308866.1:p.Lys24175=
XM_024453099.1:c.54288A>G (TTN) XP_024308867.1:p.Lys18096=
XM_024453100.1:c.44142A>G (TTN) XP_024308868.1:p.Lys14714=