Canonical Allele Identifier: CA430090294
Community Standard Title: NM_001267550.2(TTN):c.65864-7C>T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178582599G>A , CM000664.2:g.178582599G>A GRCh38
NC_000002.11:g.179447326G>A , CM000664.1:g.179447326G>A GRCh37
NC_000002.10:g.179155572G>A NCBI36
NG_011618.3:g.253204C>T , LRG_391:g.253204C>T
NG_051363.1:g.64773G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.65864-7C>T (TTN) MANE Select NP_001254479.2:n.65864-7C>T
ENST00000589042.5:c.65864-7C>T (TTN) MANE Select ENSP00000467141.1:n.65864-7C>T
NM_001256850.1:c.60941-7C>T (TTN) NP_001243779.1:n.60941-7C>T
NM_003319.4:c.38669-7C>T (TTN) NP_003310.4:n.38669-7C>T
NM_133378.4:c.58160-7C>T (TTN) NP_596869.4:n.58160-7C>T
NM_133432.3:c.39044-7C>T (TTN) NP_597676.3:n.39044-7C>T
NM_133437.4:c.39245-7C>T (TTN) NP_597681.4:n.39245-7C>T
NR_038271.1:n.596+11150G>A (TTN-AS1)
NR_038272.1:n.2071G>A (TTN-AS1)
ENST00000342175.10:c.39245-7C>T (TTN) ENSP00000340554.6:n.39245-7C>T
ENST00000342175.11:c.39245-7C>T (TTN) ENSP00000340554.6:n.39245-7C>T
ENST00000342992.10:c.58160-7C>T (TTN) ENSP00000343764.6:n.58160-7C>T
ENST00000342992.11:c.58160-7C>T (TTN) ENSP00000343764.6:n.58160-7C>T
ENST00000359218.10:c.39044-7C>T (TTN) ENSP00000352154.5:n.39044-7C>T
ENST00000359218.9:c.39044-7C>T (TTN) ENSP00000352154.5:n.39044-7C>T
ENST00000460472.6:c.38669-7C>T (TTN) ENSP00000434586.1:n.38669-7C>T
ENST00000591111.5:c.60941-7C>T (TTN) ENSP00000465570.1:n.60941-7C>T
ENST00000615779.4:c.60941-7C>T (TTN) ENSP00000483597.1:n.60941-7C>T
XM_011511729.1:c.64961-7C>T (TTN) XP_011510031.1:n.64961-7C>T
XM_011511730.1:c.38855-7C>T (TTN) XP_011510032.1:n.38855-7C>T
XM_011511731.1:c.38714-7C>T (TTN) XP_011510033.1:n.38714-7C>T
XM_017004819.1:c.64757-7C>T (TTN) XP_016860308.1:n.64757-7C>T
XM_017004820.1:c.60155-7C>T (TTN) XP_016860309.1:n.60155-7C>T
XM_017004821.1:c.60152-7C>T (TTN) XP_016860310.1:n.60152-7C>T
XM_017004822.1:c.57194-7C>T (TTN) XP_016860311.1:n.57194-7C>T
XM_017004823.1:c.38810-7C>T (TTN) XP_016860312.1:n.38810-7C>T
XM_024453094.1:c.60305-7C>T (TTN) XP_024308862.1:n.60305-7C>T
XM_024453095.1:c.60302-7C>T (TTN) XP_024308863.1:n.60302-7C>T
XM_024453096.1:c.59735-7C>T (TTN) XP_024308864.1:n.59735-7C>T
XM_024453097.1:c.57077-7C>T (TTN) XP_024308865.1:n.57077-7C>T
XM_024453098.1:c.56996-7C>T (TTN) XP_024308866.1:n.56996-7C>T
XM_024453099.1:c.38759-7C>T (TTN) XP_024308867.1:n.38759-7C>T
XM_024453100.1:c.28613-7C>T (TTN) XP_024308868.1:n.28613-7C>T