Canonical Allele Identifier: CA60958930
Community Standard Title: NM_001267550.2(TTN):c.102813A>G (p.Val34271=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533802T>C , CM000664.2:g.178533802T>C GRCh38
NC_000002.11:g.179398529T>C , CM000664.1:g.179398529T>C GRCh37
NC_000002.10:g.179106775T>C NCBI36
NG_011618.3:g.302001A>G , LRG_391:g.302001A>G
NG_051363.1:g.15976T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.102813A>G (TTN) MANE Select NP_001254479.2:p.Val34271=
ENST00000589042.5:c.102813A>G (TTN) MANE Select ENSP00000467141.1:p.Val34271=
NM_001256850.1:c.97890A>G (TTN) NP_001243779.1:p.Val32630=
NM_003319.4:c.75618A>G (TTN) NP_003310.4:p.Val25206=
NM_133378.4:c.95109A>G (TTN) NP_596869.4:p.Val31703=
NM_133432.3:c.75993A>G (TTN) NP_597676.3:p.Val25331=
NM_133437.4:c.76194A>G (TTN) NP_597681.4:p.Val25398=
NR_038271.1:n.446+10166T>C (TTN-AS1)
NR_038272.1:n.220-1930T>C (TTN-AS1)
ENST00000342175.10:c.76194A>G (TTN) ENSP00000340554.6:p.Val25398=
ENST00000342175.11:c.76194A>G (TTN) ENSP00000340554.6:p.Val25398=
ENST00000342992.10:c.95109A>G (TTN) ENSP00000343764.6:p.Val31703=
ENST00000342992.11:c.95109A>G (TTN) ENSP00000343764.6:p.Val31703=
ENST00000359218.10:c.75993A>G (TTN) ENSP00000352154.5:p.Val25331=
ENST00000359218.9:c.75993A>G (TTN) ENSP00000352154.5:p.Val25331=
ENST00000460472.6:c.75618A>G (TTN) ENSP00000434586.1:p.Val25206=
ENST00000591111.5:c.97890A>G (TTN) ENSP00000465570.1:p.Val32630=
ENST00000615779.4:c.97890A>G (TTN) ENSP00000483597.1:p.Val32630=
XM_011511729.1:c.101910A>G (TTN) XP_011510031.1:p.Val33970=
XM_011511730.1:c.75804A>G (TTN) XP_011510032.1:p.Val25268=
XM_011511731.1:c.75663A>G (TTN) XP_011510033.1:p.Val25221=
XM_017004819.1:c.101706A>G (TTN) XP_016860308.1:p.Val33902=
XM_017004820.1:c.97104A>G (TTN) XP_016860309.1:p.Val32368=
XM_017004821.1:c.97101A>G (TTN) XP_016860310.1:p.Val32367=
XM_017004822.1:c.94143A>G (TTN) XP_016860311.1:p.Val31381=
XM_017004823.1:c.75759A>G (TTN) XP_016860312.1:p.Val25253=
XM_024453094.1:c.97254A>G (TTN) XP_024308862.1:p.Val32418=
XM_024453095.1:c.97251A>G (TTN) XP_024308863.1:p.Val32417=
XM_024453096.1:c.96684A>G (TTN) XP_024308864.1:p.Val32228=
XM_024453097.1:c.94026A>G (TTN) XP_024308865.1:p.Val31342=
XM_024453098.1:c.93945A>G (TTN) XP_024308866.1:p.Val31315=
XM_024453099.1:c.75708A>G (TTN) XP_024308867.1:p.Val25236=
XM_024453100.1:c.65562A>G (TTN) XP_024308868.1:p.Val21854=