Canonical Allele Identifier: CA349568902

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607680G>C , CM000664.2:g.178607680G>C GRCh38
NC_000002.11:g.179472407G>C , CM000664.1:g.179472407G>C GRCh37
NC_000002.10:g.179180652G>C NCBI36
NG_011618.3:g.228123C>G , LRG_391:g.228123C>G
NG_051363.1:g.89854G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.45304C>G (TTN) ENSP00000343764.6:p.Pro15102Ala
ENST00000342175.11:c.26389C>G (TTN) ENSP00000340554.6:p.Pro8797Ala
ENST00000359218.10:c.26188C>G (TTN) ENSP00000352154.5:p.Pro8730Ala
ENST00000342175.10:c.26389C>G (TTN) ENSP00000340554.6:p.Pro8797Ala
ENST00000342992.10:c.45304C>G (TTN) ENSP00000343764.6:p.Pro15102Ala
ENST00000359218.9:c.26188C>G (TTN) ENSP00000352154.5:p.Pro8730Ala
ENST00000460472.6:c.25813C>G (TTN) ENSP00000434586.1:p.Pro8605Ala
ENST00000589042.5:c.53008C>G (TTN) MANE Select ENSP00000467141.1:p.Pro17670Ala
ENST00000591111.5:c.48085C>G (TTN) ENSP00000465570.1:p.Pro16029Ala
ENST00000615779.4:c.48085C>G (TTN) ENSP00000483597.1:p.Pro16029Ala
NM_001256850.1:c.48085C>G (TTN) NP_001243779.1:p.Pro16029Ala
NM_001267550.2:c.53008C>G (TTN) MANE Select NP_001254479.2:p.Pro17670Ala
NM_003319.4:c.25813C>G (TTN) NP_003310.4:p.Pro8605Ala
NM_133378.4:c.45304C>G (TTN) NP_596869.4:p.Pro15102Ala
NM_133432.3:c.26188C>G (TTN) NP_597676.3:p.Pro8730Ala
NM_133437.4:c.26389C>G (TTN) NP_597681.4:p.Pro8797Ala
NR_038271.1:n.683-487G>C (TTN-AS1)
XM_011511729.1:c.52105C>G (TTN) XP_011510031.1:p.Pro17369Ala
XM_011511730.1:c.25999C>G (TTN) XP_011510032.1:p.Pro8667Ala
XM_011511731.1:c.25858C>G (TTN) XP_011510033.1:p.Pro8620Ala
XM_017004819.1:c.51901C>G (TTN) XP_016860308.1:p.Pro17301Ala
XM_017004820.1:c.47299C>G (TTN) XP_016860309.1:p.Pro15767Ala
XM_017004821.1:c.47296C>G (TTN) XP_016860310.1:p.Pro15766Ala
XM_017004822.1:c.44338C>G (TTN) XP_016860311.1:p.Pro14780Ala
XM_017004823.1:c.25954C>G (TTN) XP_016860312.1:p.Pro8652Ala
XM_024453094.1:c.47449C>G (TTN) XP_024308862.1:p.Pro15817Ala
XM_024453095.1:c.47446C>G (TTN) XP_024308863.1:p.Pro15816Ala
XM_024453096.1:c.46879C>G (TTN) XP_024308864.1:p.Pro15627Ala
XM_024453097.1:c.44221C>G (TTN) XP_024308865.1:p.Pro14741Ala
XM_024453098.1:c.44140C>G (TTN) XP_024308866.1:p.Pro14714Ala
XM_024453099.1:c.25903C>G (TTN) XP_024308867.1:p.Pro8635Ala
XM_024453100.1:c.15757C>G (TTN) XP_024308868.1:p.Pro5253Ala