Canonical Allele Identifier: CA1991484
Community Standard Title: NM_001267550.2(TTN):c.66552C>T (p.Gly22184=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178581716G>A , CM000664.2:g.178581716G>A GRCh38
NC_000002.11:g.179446443G>A , CM000664.1:g.179446443G>A GRCh37
NC_000002.10:g.179154689G>A NCBI36
NG_011618.3:g.254087C>T , LRG_391:g.254087C>T
NG_051363.1:g.63890G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.66552C>T (TTN) MANE Select NP_001254479.2:p.Gly22184=
ENST00000589042.5:c.66552C>T (TTN) MANE Select ENSP00000467141.1:p.Gly22184=
NM_001256850.1:c.61629C>T (TTN) NP_001243779.1:p.Gly20543=
NM_003319.4:c.39357C>T (TTN) NP_003310.4:p.Gly13119=
NM_133378.4:c.58848C>T (TTN) NP_596869.4:p.Gly19616=
NM_133432.3:c.39732C>T (TTN) NP_597676.3:p.Gly13244=
NM_133437.4:c.39933C>T (TTN) NP_597681.4:p.Gly13311=
NR_038271.1:n.596+10267G>A (TTN-AS1)
NR_038272.1:n.2044-856G>A (TTN-AS1)
ENST00000342175.10:c.39933C>T (TTN) ENSP00000340554.6:p.Gly13311=
ENST00000342175.11:c.39933C>T (TTN) ENSP00000340554.6:p.Gly13311=
ENST00000342992.10:c.58848C>T (TTN) ENSP00000343764.6:p.Gly19616=
ENST00000342992.11:c.58848C>T (TTN) ENSP00000343764.6:p.Gly19616=
ENST00000359218.10:c.39732C>T (TTN) ENSP00000352154.5:p.Gly13244=
ENST00000359218.9:c.39732C>T (TTN) ENSP00000352154.5:p.Gly13244=
ENST00000460472.6:c.39357C>T (TTN) ENSP00000434586.1:p.Gly13119=
ENST00000591111.5:c.61629C>T (TTN) ENSP00000465570.1:p.Gly20543=
ENST00000615779.4:c.61629C>T (TTN) ENSP00000483597.1:p.Gly20543=
XM_011511729.1:c.65649C>T (TTN) XP_011510031.1:p.Gly21883=
XM_011511730.1:c.39543C>T (TTN) XP_011510032.1:p.Gly13181=
XM_011511731.1:c.39402C>T (TTN) XP_011510033.1:p.Gly13134=
XM_017004819.1:c.65445C>T (TTN) XP_016860308.1:p.Gly21815=
XM_017004820.1:c.60843C>T (TTN) XP_016860309.1:p.Gly20281=
XM_017004821.1:c.60840C>T (TTN) XP_016860310.1:p.Gly20280=
XM_017004822.1:c.57882C>T (TTN) XP_016860311.1:p.Gly19294=
XM_017004823.1:c.39498C>T (TTN) XP_016860312.1:p.Gly13166=
XM_024453094.1:c.60993C>T (TTN) XP_024308862.1:p.Gly20331=
XM_024453095.1:c.60990C>T (TTN) XP_024308863.1:p.Gly20330=
XM_024453096.1:c.60423C>T (TTN) XP_024308864.1:p.Gly20141=
XM_024453097.1:c.57765C>T (TTN) XP_024308865.1:p.Gly19255=
XM_024453098.1:c.57684C>T (TTN) XP_024308866.1:p.Gly19228=
XM_024453099.1:c.39447C>T (TTN) XP_024308867.1:p.Gly13149=
XM_024453100.1:c.29301C>T (TTN) XP_024308868.1:p.Gly9767=