Canonical Allele Identifier: CA349427110

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537169G>C , CM000664.2:g.178537169G>C GRCh38
NC_000002.11:g.179401896G>C , CM000664.1:g.179401896G>C GRCh37
NC_000002.10:g.179110142G>C NCBI36
NG_011618.3:g.298634C>G , LRG_391:g.298634C>G
NG_051363.1:g.19343G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92236C>G (TTN) ENSP00000343764.6:p.Pro30746Ala
ENST00000342175.11:c.73321C>G (TTN) ENSP00000340554.6:p.Pro24441Ala
ENST00000359218.10:c.73120C>G (TTN) ENSP00000352154.5:p.Pro24374Ala
ENST00000342175.10:c.73321C>G (TTN) ENSP00000340554.6:p.Pro24441Ala
ENST00000342992.10:c.92236C>G (TTN) ENSP00000343764.6:p.Pro30746Ala
ENST00000359218.9:c.73120C>G (TTN) ENSP00000352154.5:p.Pro24374Ala
ENST00000460472.6:c.72745C>G (TTN) ENSP00000434586.1:p.Pro24249Ala
ENST00000589042.5:c.99940C>G (TTN) MANE Select ENSP00000467141.1:p.Pro33314Ala
ENST00000591111.5:c.95017C>G (TTN) ENSP00000465570.1:p.Pro31673Ala
ENST00000615779.4:c.95017C>G (TTN) ENSP00000483597.1:p.Pro31673Ala
NM_001256850.1:c.95017C>G (TTN) NP_001243779.1:p.Pro31673Ala
NM_001267550.2:c.99940C>G (TTN) MANE Select NP_001254479.2:p.Pro33314Ala
NM_003319.4:c.72745C>G (TTN) NP_003310.4:p.Pro24249Ala
NM_133378.4:c.92236C>G (TTN) NP_596869.4:p.Pro30746Ala
NM_133432.3:c.73120C>G (TTN) NP_597676.3:p.Pro24374Ala
NM_133437.4:c.73321C>G (TTN) NP_597681.4:p.Pro24441Ala
NR_038271.1:n.446+13533G>C (TTN-AS1)
NR_038272.1:n.317-192G>C (TTN-AS1)
XM_011511729.1:c.99037C>G (TTN) XP_011510031.1:p.Pro33013Ala
XM_011511730.1:c.72931C>G (TTN) XP_011510032.1:p.Pro24311Ala
XM_011511731.1:c.72790C>G (TTN) XP_011510033.1:p.Pro24264Ala
XM_017004819.1:c.98833C>G (TTN) XP_016860308.1:p.Pro32945Ala
XM_017004820.1:c.94231C>G (TTN) XP_016860309.1:p.Pro31411Ala
XM_017004821.1:c.94228C>G (TTN) XP_016860310.1:p.Pro31410Ala
XM_017004822.1:c.91270C>G (TTN) XP_016860311.1:p.Pro30424Ala
XM_017004823.1:c.72886C>G (TTN) XP_016860312.1:p.Pro24296Ala
XM_024453094.1:c.94381C>G (TTN) XP_024308862.1:p.Pro31461Ala
XM_024453095.1:c.94378C>G (TTN) XP_024308863.1:p.Pro31460Ala
XM_024453096.1:c.93811C>G (TTN) XP_024308864.1:p.Pro31271Ala
XM_024453097.1:c.91153C>G (TTN) XP_024308865.1:p.Pro30385Ala
XM_024453098.1:c.91072C>G (TTN) XP_024308866.1:p.Pro30358Ala
XM_024453099.1:c.72835C>G (TTN) XP_024308867.1:p.Pro24279Ala
XM_024453100.1:c.62689C>G (TTN) XP_024308868.1:p.Pro20897Ala