Canonical Allele Identifier: CA349423099

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579298G>C , CM000664.2:g.178579298G>C GRCh38
NC_000002.11:g.179444025G>C , CM000664.1:g.179444025G>C GRCh37
NC_000002.10:g.179152271G>C NCBI36
NG_011618.3:g.256505C>G , LRG_391:g.256505C>G
NG_051363.1:g.61472G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.60028C>G (TTN) ENSP00000343764.6:p.Pro20010Ala
ENST00000342175.11:c.41113C>G (TTN) ENSP00000340554.6:p.Pro13705Ala
ENST00000359218.10:c.40912C>G (TTN) ENSP00000352154.5:p.Pro13638Ala
ENST00000342175.10:c.41113C>G (TTN) ENSP00000340554.6:p.Pro13705Ala
ENST00000342992.10:c.60028C>G (TTN) ENSP00000343764.6:p.Pro20010Ala
ENST00000359218.9:c.40912C>G (TTN) ENSP00000352154.5:p.Pro13638Ala
ENST00000460472.6:c.40537C>G (TTN) ENSP00000434586.1:p.Pro13513Ala
ENST00000589042.5:c.67732C>G (TTN) MANE Select ENSP00000467141.1:p.Pro22578Ala
ENST00000591111.5:c.62809C>G (TTN) ENSP00000465570.1:p.Pro20937Ala
ENST00000615779.4:c.62809C>G (TTN) ENSP00000483597.1:p.Pro20937Ala
NM_001256850.1:c.62809C>G (TTN) NP_001243779.1:p.Pro20937Ala
NM_001267550.2:c.67732C>G (TTN) MANE Select NP_001254479.2:p.Pro22578Ala
NM_003319.4:c.40537C>G (TTN) NP_003310.4:p.Pro13513Ala
NM_133378.4:c.60028C>G (TTN) NP_596869.4:p.Pro20010Ala
NM_133432.3:c.40912C>G (TTN) NP_597676.3:p.Pro13638Ala
NM_133437.4:c.41113C>G (TTN) NP_597681.4:p.Pro13705Ala
NR_038271.1:n.596+7849G>C (TTN-AS1)
NR_038272.1:n.2044-3274G>C (TTN-AS1)
XM_011511729.1:c.66829C>G (TTN) XP_011510031.1:p.Pro22277Ala
XM_011511730.1:c.40723C>G (TTN) XP_011510032.1:p.Pro13575Ala
XM_011511731.1:c.40582C>G (TTN) XP_011510033.1:p.Pro13528Ala
XM_017004819.1:c.66625C>G (TTN) XP_016860308.1:p.Pro22209Ala
XM_017004820.1:c.62023C>G (TTN) XP_016860309.1:p.Pro20675Ala
XM_017004821.1:c.62020C>G (TTN) XP_016860310.1:p.Pro20674Ala
XM_017004822.1:c.59062C>G (TTN) XP_016860311.1:p.Pro19688Ala
XM_017004823.1:c.40678C>G (TTN) XP_016860312.1:p.Pro13560Ala
XM_024453094.1:c.62173C>G (TTN) XP_024308862.1:p.Pro20725Ala
XM_024453095.1:c.62170C>G (TTN) XP_024308863.1:p.Pro20724Ala
XM_024453096.1:c.61603C>G (TTN) XP_024308864.1:p.Pro20535Ala
XM_024453097.1:c.58945C>G (TTN) XP_024308865.1:p.Pro19649Ala
XM_024453098.1:c.58864C>G (TTN) XP_024308866.1:p.Pro19622Ala
XM_024453099.1:c.40627C>G (TTN) XP_024308867.1:p.Pro13543Ala
XM_024453100.1:c.30481C>G (TTN) XP_024308868.1:p.Pro10161Ala