Canonical Allele Identifier: CA430262549
Community Standard Title: NM_001267550.2(TTN):c.66423C>T (p.Pro22141=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178581946G>A , CM000664.2:g.178581946G>A GRCh38
NC_000002.11:g.179446673G>A , CM000664.1:g.179446673G>A GRCh37
NC_000002.10:g.179154919G>A NCBI36
NG_011618.3:g.253857C>T , LRG_391:g.253857C>T
NG_051363.1:g.64120G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.66423C>T (TTN) MANE Select NP_001254479.2:p.Pro22141=
ENST00000589042.5:c.66423C>T (TTN) MANE Select ENSP00000467141.1:p.Pro22141=
NM_001256850.1:c.61500C>T (TTN) NP_001243779.1:p.Pro20500=
NM_003319.4:c.39228C>T (TTN) NP_003310.4:p.Pro13076=
NM_133378.4:c.58719C>T (TTN) NP_596869.4:p.Pro19573=
NM_133432.3:c.39603C>T (TTN) NP_597676.3:p.Pro13201=
NM_133437.4:c.39804C>T (TTN) NP_597681.4:p.Pro13268=
NR_038271.1:n.596+10497G>A (TTN-AS1)
NR_038272.1:n.2044-626G>A (TTN-AS1)
ENST00000342175.10:c.39804C>T (TTN) ENSP00000340554.6:p.Pro13268=
ENST00000342175.11:c.39804C>T (TTN) ENSP00000340554.6:p.Pro13268=
ENST00000342992.10:c.58719C>T (TTN) ENSP00000343764.6:p.Pro19573=
ENST00000342992.11:c.58719C>T (TTN) ENSP00000343764.6:p.Pro19573=
ENST00000359218.10:c.39603C>T (TTN) ENSP00000352154.5:p.Pro13201=
ENST00000359218.9:c.39603C>T (TTN) ENSP00000352154.5:p.Pro13201=
ENST00000460472.6:c.39228C>T (TTN) ENSP00000434586.1:p.Pro13076=
ENST00000591111.5:c.61500C>T (TTN) ENSP00000465570.1:p.Pro20500=
ENST00000615779.4:c.61500C>T (TTN) ENSP00000483597.1:p.Pro20500=
XM_011511729.1:c.65520C>T (TTN) XP_011510031.1:p.Pro21840=
XM_011511730.1:c.39414C>T (TTN) XP_011510032.1:p.Pro13138=
XM_011511731.1:c.39273C>T (TTN) XP_011510033.1:p.Pro13091=
XM_017004819.1:c.65316C>T (TTN) XP_016860308.1:p.Pro21772=
XM_017004820.1:c.60714C>T (TTN) XP_016860309.1:p.Pro20238=
XM_017004821.1:c.60711C>T (TTN) XP_016860310.1:p.Pro20237=
XM_017004822.1:c.57753C>T (TTN) XP_016860311.1:p.Pro19251=
XM_017004823.1:c.39369C>T (TTN) XP_016860312.1:p.Pro13123=
XM_024453094.1:c.60864C>T (TTN) XP_024308862.1:p.Pro20288=
XM_024453095.1:c.60861C>T (TTN) XP_024308863.1:p.Pro20287=
XM_024453096.1:c.60294C>T (TTN) XP_024308864.1:p.Pro20098=
XM_024453097.1:c.57636C>T (TTN) XP_024308865.1:p.Pro19212=
XM_024453098.1:c.57555C>T (TTN) XP_024308866.1:p.Pro19185=
XM_024453099.1:c.39318C>T (TTN) XP_024308867.1:p.Pro13106=
XM_024453100.1:c.29172C>T (TTN) XP_024308868.1:p.Pro9724=