Canonical Allele Identifier: CA349604961

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178613923G>A , CM000664.2:g.178613923G>A GRCh38
NC_000002.11:g.179478650G>A , CM000664.1:g.179478650G>A GRCh37
NC_000002.10:g.179186895G>A NCBI36
NG_011618.3:g.221880C>T , LRG_391:g.221880C>T
NG_051363.1:g.96097G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.41656C>T (TTN) ENSP00000343764.6:p.Pro13886Ser
ENST00000342175.11:c.22741C>T (TTN) ENSP00000340554.6:p.Pro7581Ser
ENST00000359218.10:c.22540C>T (TTN) ENSP00000352154.5:p.Pro7514Ser
ENST00000342175.10:c.22741C>T (TTN) ENSP00000340554.6:p.Pro7581Ser
ENST00000342992.10:c.41656C>T (TTN) ENSP00000343764.6:p.Pro13886Ser
ENST00000359218.9:c.22540C>T (TTN) ENSP00000352154.5:p.Pro7514Ser
ENST00000460472.6:c.22165C>T (TTN) ENSP00000434586.1:p.Pro7389Ser
ENST00000589042.5:c.49360C>T (TTN) MANE Select ENSP00000467141.1:p.Pro16454Ser
ENST00000591111.5:c.44437C>T (TTN) ENSP00000465570.1:p.Pro14813Ser
ENST00000615779.4:c.44437C>T (TTN) ENSP00000483597.1:p.Pro14813Ser
NM_001256850.1:c.44437C>T (TTN) NP_001243779.1:p.Pro14813Ser
NM_001267550.2:c.49360C>T (TTN) MANE Select NP_001254479.2:p.Pro16454Ser
NM_003319.4:c.22165C>T (TTN) NP_003310.4:p.Pro7389Ser
NM_133378.4:c.41656C>T (TTN) NP_596869.4:p.Pro13886Ser
NM_133432.3:c.22540C>T (TTN) NP_597676.3:p.Pro7514Ser
NM_133437.4:c.22741C>T (TTN) NP_597681.4:p.Pro7581Ser
NR_038271.1:n.783-112G>A (TTN-AS1)
XM_011511729.1:c.48457C>T (TTN) XP_011510031.1:p.Pro16153Ser
XM_011511730.1:c.22351C>T (TTN) XP_011510032.1:p.Pro7451Ser
XM_011511731.1:c.22210C>T (TTN) XP_011510033.1:p.Pro7404Ser
XM_017004819.1:c.48253C>T (TTN) XP_016860308.1:p.Pro16085Ser
XM_017004820.1:c.43651C>T (TTN) XP_016860309.1:p.Pro14551Ser
XM_017004821.1:c.43648C>T (TTN) XP_016860310.1:p.Pro14550Ser
XM_017004822.1:c.40690C>T (TTN) XP_016860311.1:p.Pro13564Ser
XM_017004823.1:c.22306C>T (TTN) XP_016860312.1:p.Pro7436Ser
XM_024453094.1:c.43801C>T (TTN) XP_024308862.1:p.Pro14601Ser
XM_024453095.1:c.43798C>T (TTN) XP_024308863.1:p.Pro14600Ser
XM_024453096.1:c.43231C>T (TTN) XP_024308864.1:p.Pro14411Ser
XM_024453097.1:c.40573C>T (TTN) XP_024308865.1:p.Pro13525Ser
XM_024453098.1:c.40492C>T (TTN) XP_024308866.1:p.Pro13498Ser
XM_024453099.1:c.22255C>T (TTN) XP_024308867.1:p.Pro7419Ser
XM_024453100.1:c.12109C>T (TTN) XP_024308868.1:p.Pro4037Ser