Canonical Allele Identifier: CA430272295
Community Standard Title: NM_001267550.2(TTN):c.50925T>C (p.Pro16975=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178611204A>G , CM000664.2:g.178611204A>G GRCh38
NC_000002.11:g.179475931A>G , CM000664.1:g.179475931A>G GRCh37
NC_000002.10:g.179184176A>G NCBI36
NG_011618.3:g.224599T>C , LRG_391:g.224599T>C
NG_051363.1:g.93378A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.50925T>C (TTN) MANE Select NP_001254479.2:p.Pro16975=
ENST00000589042.5:c.50925T>C (TTN) MANE Select ENSP00000467141.1:p.Pro16975=
NM_001256850.1:c.46002T>C (TTN) NP_001243779.1:p.Pro15334=
NM_003319.4:c.23730T>C (TTN) NP_003310.4:p.Pro7910=
NM_133378.4:c.43221T>C (TTN) NP_596869.4:p.Pro14407=
NM_133432.3:c.24105T>C (TTN) NP_597676.3:p.Pro8035=
NM_133437.4:c.24306T>C (TTN) NP_597681.4:p.Pro8102=
NR_038271.1:n.783-2831A>G (TTN-AS1)
ENST00000342175.10:c.24306T>C (TTN) ENSP00000340554.6:p.Pro8102=
ENST00000342175.11:c.24306T>C (TTN) ENSP00000340554.6:p.Pro8102=
ENST00000342992.10:c.43221T>C (TTN) ENSP00000343764.6:p.Pro14407=
ENST00000342992.11:c.43221T>C (TTN) ENSP00000343764.6:p.Pro14407=
ENST00000359218.10:c.24105T>C (TTN) ENSP00000352154.5:p.Pro8035=
ENST00000359218.9:c.24105T>C (TTN) ENSP00000352154.5:p.Pro8035=
ENST00000460472.6:c.23730T>C (TTN) ENSP00000434586.1:p.Pro7910=
ENST00000591111.5:c.46002T>C (TTN) ENSP00000465570.1:p.Pro15334=
ENST00000615779.4:c.46002T>C (TTN) ENSP00000483597.1:p.Pro15334=
XM_011511729.1:c.50022T>C (TTN) XP_011510031.1:p.Pro16674=
XM_011511730.1:c.23916T>C (TTN) XP_011510032.1:p.Pro7972=
XM_011511731.1:c.23775T>C (TTN) XP_011510033.1:p.Pro7925=
XM_017004819.1:c.49818T>C (TTN) XP_016860308.1:p.Pro16606=
XM_017004820.1:c.45216T>C (TTN) XP_016860309.1:p.Pro15072=
XM_017004821.1:c.45213T>C (TTN) XP_016860310.1:p.Pro15071=
XM_017004822.1:c.42255T>C (TTN) XP_016860311.1:p.Pro14085=
XM_017004823.1:c.23871T>C (TTN) XP_016860312.1:p.Pro7957=
XM_024453094.1:c.45366T>C (TTN) XP_024308862.1:p.Pro15122=
XM_024453095.1:c.45363T>C (TTN) XP_024308863.1:p.Pro15121=
XM_024453096.1:c.44796T>C (TTN) XP_024308864.1:p.Pro14932=
XM_024453097.1:c.42138T>C (TTN) XP_024308865.1:p.Pro14046=
XM_024453098.1:c.42057T>C (TTN) XP_024308866.1:p.Pro14019=
XM_024453099.1:c.23820T>C (TTN) XP_024308867.1:p.Pro7940=
XM_024453100.1:c.13674T>C (TTN) XP_024308868.1:p.Pro4558=