Canonical Allele Identifier: CA310328
Community Standard Title: NM_001267550.2(TTN):c.66568G>C (p.Gly22190Arg)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178581700C>G , CM000664.2:g.178581700C>G GRCh38
NC_000002.11:g.179446427C>G , CM000664.1:g.179446427C>G GRCh37
NC_000002.10:g.179154673C>G NCBI36
NG_011618.3:g.254103G>C , LRG_391:g.254103G>C
NG_051363.1:g.63874C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.66568G>C (TTN) MANE Select NP_001254479.2:p.Gly22190Arg
ENST00000589042.5:c.66568G>C (TTN) MANE Select ENSP00000467141.1:p.Gly22190Arg
NM_001256850.1:c.61645G>C (TTN) NP_001243779.1:p.Gly20549Arg
NM_003319.4:c.39373G>C (TTN) NP_003310.4:p.Gly13125Arg
NM_133378.4:c.58864G>C (TTN) NP_596869.4:p.Gly19622Arg
NM_133432.3:c.39748G>C (TTN) NP_597676.3:p.Gly13250Arg
NM_133437.4:c.39949G>C (TTN) NP_597681.4:p.Gly13317Arg
NR_038271.1:n.596+10251C>G (TTN-AS1)
NR_038272.1:n.2044-872C>G (TTN-AS1)
ENST00000342175.10:c.39949G>C (TTN) ENSP00000340554.6:p.Gly13317Arg
ENST00000342175.11:c.39949G>C (TTN) ENSP00000340554.6:p.Gly13317Arg
ENST00000342992.10:c.58864G>C (TTN) ENSP00000343764.6:p.Gly19622Arg
ENST00000342992.11:c.58864G>C (TTN) ENSP00000343764.6:p.Gly19622Arg
ENST00000359218.10:c.39748G>C (TTN) ENSP00000352154.5:p.Gly13250Arg
ENST00000359218.9:c.39748G>C (TTN) ENSP00000352154.5:p.Gly13250Arg
ENST00000460472.6:c.39373G>C (TTN) ENSP00000434586.1:p.Gly13125Arg
ENST00000591111.5:c.61645G>C (TTN) ENSP00000465570.1:p.Gly20549Arg
ENST00000615779.4:c.61645G>C (TTN) ENSP00000483597.1:p.Gly20549Arg
XM_011511729.1:c.65665G>C (TTN) XP_011510031.1:p.Gly21889Arg
XM_011511730.1:c.39559G>C (TTN) XP_011510032.1:p.Gly13187Arg
XM_011511731.1:c.39418G>C (TTN) XP_011510033.1:p.Gly13140Arg
XM_017004819.1:c.65461G>C (TTN) XP_016860308.1:p.Gly21821Arg
XM_017004820.1:c.60859G>C (TTN) XP_016860309.1:p.Gly20287Arg
XM_017004821.1:c.60856G>C (TTN) XP_016860310.1:p.Gly20286Arg
XM_017004822.1:c.57898G>C (TTN) XP_016860311.1:p.Gly19300Arg
XM_017004823.1:c.39514G>C (TTN) XP_016860312.1:p.Gly13172Arg
XM_024453094.1:c.61009G>C (TTN) XP_024308862.1:p.Gly20337Arg
XM_024453095.1:c.61006G>C (TTN) XP_024308863.1:p.Gly20336Arg
XM_024453096.1:c.60439G>C (TTN) XP_024308864.1:p.Gly20147Arg
XM_024453097.1:c.57781G>C (TTN) XP_024308865.1:p.Gly19261Arg
XM_024453098.1:c.57700G>C (TTN) XP_024308866.1:p.Gly19234Arg
XM_024453099.1:c.39463G>C (TTN) XP_024308867.1:p.Gly13155Arg
XM_024453100.1:c.29317G>C (TTN) XP_024308868.1:p.Gly9773Arg