Canonical Allele Identifier: CA349600971

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567307C>A , CM000664.2:g.178567307C>A GRCh38
NC_000002.11:g.179432034C>A , CM000664.1:g.179432034C>A GRCh37
NC_000002.10:g.179140280C>A NCBI36
NG_011618.3:g.268496G>T , LRG_391:g.268496G>T
NG_051363.1:g.49481C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71121G>T (TTN) ENSP00000343764.6:p.Lys23707Asn
ENST00000342175.11:c.52206G>T (TTN) ENSP00000340554.6:p.Lys17402Asn
ENST00000359218.10:c.52005G>T (TTN) ENSP00000352154.5:p.Lys17335Asn
ENST00000342175.10:c.52206G>T (TTN) ENSP00000340554.6:p.Lys17402Asn
ENST00000342992.10:c.71121G>T (TTN) ENSP00000343764.6:p.Lys23707Asn
ENST00000359218.9:c.52005G>T (TTN) ENSP00000352154.5:p.Lys17335Asn
ENST00000460472.6:c.51630G>T (TTN) ENSP00000434586.1:p.Lys17210Asn
ENST00000589042.5:c.78825G>T (TTN) MANE Select ENSP00000467141.1:p.Lys26275Asn
ENST00000591111.5:c.73902G>T (TTN) ENSP00000465570.1:p.Lys24634Asn
ENST00000615779.4:c.73902G>T (TTN) ENSP00000483597.1:p.Lys24634Asn
NM_001256850.1:c.73902G>T (TTN) NP_001243779.1:p.Lys24634Asn
NM_001267550.2:c.78825G>T (TTN) MANE Select NP_001254479.2:p.Lys26275Asn
NM_003319.4:c.51630G>T (TTN) NP_003310.4:p.Lys17210Asn
NM_133378.4:c.71121G>T (TTN) NP_596869.4:p.Lys23707Asn
NM_133432.3:c.52005G>T (TTN) NP_597676.3:p.Lys17335Asn
NM_133437.4:c.52206G>T (TTN) NP_597681.4:p.Lys17402Asn
NR_038271.1:n.447-3993C>A (TTN-AS1)
NR_038272.1:n.2044-15265C>A (TTN-AS1)
XM_011511729.1:c.77922G>T (TTN) XP_011510031.1:p.Lys25974Asn
XM_011511730.1:c.51816G>T (TTN) XP_011510032.1:p.Lys17272Asn
XM_011511731.1:c.51675G>T (TTN) XP_011510033.1:p.Lys17225Asn
XM_017004819.1:c.77718G>T (TTN) XP_016860308.1:p.Lys25906Asn
XM_017004820.1:c.73116G>T (TTN) XP_016860309.1:p.Lys24372Asn
XM_017004821.1:c.73113G>T (TTN) XP_016860310.1:p.Lys24371Asn
XM_017004822.1:c.70155G>T (TTN) XP_016860311.1:p.Lys23385Asn
XM_017004823.1:c.51771G>T (TTN) XP_016860312.1:p.Lys17257Asn
XM_024453094.1:c.73266G>T (TTN) XP_024308862.1:p.Lys24422Asn
XM_024453095.1:c.73263G>T (TTN) XP_024308863.1:p.Lys24421Asn
XM_024453096.1:c.72696G>T (TTN) XP_024308864.1:p.Lys24232Asn
XM_024453097.1:c.70038G>T (TTN) XP_024308865.1:p.Lys23346Asn
XM_024453098.1:c.69957G>T (TTN) XP_024308866.1:p.Lys23319Asn
XM_024453099.1:c.51720G>T (TTN) XP_024308867.1:p.Lys17240Asn
XM_024453100.1:c.41574G>T (TTN) XP_024308868.1:p.Lys13858Asn