Canonical Allele Identifier: CA1310518071

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532088G= , CM000664.2:g.178532088G= GRCh38
NC_000002.11:g.179396815G= , CM000664.1:g.179396815G= GRCh37
NC_000002.10:g.179105061G= NCBI36
NG_011618.3:g.303715C= , LRG_391:g.303715C=
NG_051363.1:g.14262G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96823C= (TTN) ENSP00000343764.6:p.Leu32275=
ENST00000342175.11:c.77908C= (TTN) ENSP00000340554.6:p.Leu25970=
ENST00000359218.10:c.77707C= (TTN) ENSP00000352154.5:p.Leu25903=
ENST00000342175.10:c.77908C= (TTN) ENSP00000340554.6:p.Leu25970=
ENST00000342992.10:c.96823C= (TTN) ENSP00000343764.6:p.Leu32275=
ENST00000359218.9:c.77707C= (TTN) ENSP00000352154.5:p.Leu25903=
ENST00000460472.6:c.77332C= (TTN) ENSP00000434586.1:p.Leu25778=
ENST00000589042.5:c.104527C= (TTN) MANE Select ENSP00000467141.1:p.Leu34843=
ENST00000591111.5:c.99604C= (TTN) ENSP00000465570.1:p.Leu33202=
ENST00000615779.4:c.99604C= (TTN) ENSP00000483597.1:p.Leu33202=
NM_001256850.1:c.99604C= (TTN) NP_001243779.1:p.Leu33202=
NM_001267550.2:c.104527C= (TTN) MANE Select NP_001254479.2:p.Leu34843=
NM_003319.4:c.77332C= (TTN) NP_003310.4:p.Leu25778=
NM_133378.4:c.96823C= (TTN) NP_596869.4:p.Leu32275=
NM_133432.3:c.77707C= (TTN) NP_597676.3:p.Leu25903=
NM_133437.4:c.77908C= (TTN) NP_597681.4:p.Leu25970=
NR_038271.1:n.446+8452G= (TTN-AS1)
NR_038272.1:n.220-3644G= (TTN-AS1)
XM_011511729.1:c.103624C= (TTN) XP_011510031.1:p.Leu34542=
XM_011511730.1:c.77518C= (TTN) XP_011510032.1:p.Leu25840=
XM_011511731.1:c.77377C= (TTN) XP_011510033.1:p.Leu25793=
XM_017004819.1:c.103420C= (TTN) XP_016860308.1:p.Leu34474=
XM_017004820.1:c.98818C= (TTN) XP_016860309.1:p.Leu32940=
XM_017004821.1:c.98815C= (TTN) XP_016860310.1:p.Leu32939=
XM_017004822.1:c.95857C= (TTN) XP_016860311.1:p.Leu31953=
XM_017004823.1:c.77473C= (TTN) XP_016860312.1:p.Leu25825=
XM_024453094.1:c.98968C= (TTN) XP_024308862.1:p.Leu32990=
XM_024453095.1:c.98965C= (TTN) XP_024308863.1:p.Leu32989=
XM_024453096.1:c.98398C= (TTN) XP_024308864.1:p.Leu32800=
XM_024453097.1:c.95740C= (TTN) XP_024308865.1:p.Leu31914=
XM_024453098.1:c.95659C= (TTN) XP_024308866.1:p.Leu31887=
XM_024453099.1:c.77422C= (TTN) XP_024308867.1:p.Leu25808=
XM_024453100.1:c.67276C= (TTN) XP_024308868.1:p.Leu22426=