Canonical Allele Identifier: CA349428716

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178581650G>C , CM000664.2:g.178581650G>C GRCh38
NC_000002.11:g.179446377G>C , CM000664.1:g.179446377G>C GRCh37
NC_000002.10:g.179154623G>C NCBI36
NG_011618.3:g.254153C>G , LRG_391:g.254153C>G
NG_051363.1:g.63824G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.66618C>G (TTN) MANE Select NP_001254479.2:p.Cys22206Trp
ENST00000589042.5:c.66618C>G (TTN) MANE Select ENSP00000467141.1:p.Cys22206Trp
NM_001256850.1:c.61695C>G (TTN) NP_001243779.1:p.Cys20565Trp
NM_003319.4:c.39423C>G (TTN) NP_003310.4:p.Cys13141Trp
NM_133378.4:c.58914C>G (TTN) NP_596869.4:p.Cys19638Trp
NM_133432.3:c.39798C>G (TTN) NP_597676.3:p.Cys13266Trp
NM_133437.4:c.39999C>G (TTN) NP_597681.4:p.Cys13333Trp
NR_038271.1:n.596+10201G>C (TTN-AS1)
NR_038272.1:n.2044-922G>C (TTN-AS1)
ENST00000342175.10:c.39999C>G (TTN) ENSP00000340554.6:p.Cys13333Trp
ENST00000342175.11:c.39999C>G (TTN) ENSP00000340554.6:p.Cys13333Trp
ENST00000342992.10:c.58914C>G (TTN) ENSP00000343764.6:p.Cys19638Trp
ENST00000342992.11:c.58914C>G (TTN) ENSP00000343764.6:p.Cys19638Trp
ENST00000359218.10:c.39798C>G (TTN) ENSP00000352154.5:p.Cys13266Trp
ENST00000359218.9:c.39798C>G (TTN) ENSP00000352154.5:p.Cys13266Trp
ENST00000460472.6:c.39423C>G (TTN) ENSP00000434586.1:p.Cys13141Trp
ENST00000591111.5:c.61695C>G (TTN) ENSP00000465570.1:p.Cys20565Trp
ENST00000615779.4:c.61695C>G (TTN) ENSP00000483597.1:p.Cys20565Trp
XM_011511729.1:c.65715C>G (TTN) XP_011510031.1:p.Cys21905Trp
XM_011511730.1:c.39609C>G (TTN) XP_011510032.1:p.Cys13203Trp
XM_011511731.1:c.39468C>G (TTN) XP_011510033.1:p.Cys13156Trp
XM_017004819.1:c.65511C>G (TTN) XP_016860308.1:p.Cys21837Trp
XM_017004820.1:c.60909C>G (TTN) XP_016860309.1:p.Cys20303Trp
XM_017004821.1:c.60906C>G (TTN) XP_016860310.1:p.Cys20302Trp
XM_017004822.1:c.57948C>G (TTN) XP_016860311.1:p.Cys19316Trp
XM_017004823.1:c.39564C>G (TTN) XP_016860312.1:p.Cys13188Trp
XM_024453094.1:c.61059C>G (TTN) XP_024308862.1:p.Cys20353Trp
XM_024453095.1:c.61056C>G (TTN) XP_024308863.1:p.Cys20352Trp
XM_024453096.1:c.60489C>G (TTN) XP_024308864.1:p.Cys20163Trp
XM_024453097.1:c.57831C>G (TTN) XP_024308865.1:p.Cys19277Trp
XM_024453098.1:c.57750C>G (TTN) XP_024308866.1:p.Cys19250Trp
XM_024453099.1:c.39513C>G (TTN) XP_024308867.1:p.Cys13171Trp
XM_024453100.1:c.29367C>G (TTN) XP_024308868.1:p.Cys9789Trp