Canonical Allele Identifier: CA1996244
Community Standard Title: NM_001267550.2(TTN):c.41569G>A (p.Ala13857Thr)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178636002C>T , CM000664.2:g.178636002C>T GRCh38
NC_000002.11:g.179500729C>T , CM000664.1:g.179500729C>T GRCh37
NC_000002.10:g.179208974C>T NCBI36
NG_011618.3:g.199801G>A , LRG_391:g.199801G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.41569G>A MANE Select NP_001254479.2:p.Ala13857Thr
ENST00000589042.5:c.41569G>A MANE Select ENSP00000467141.1:p.Ala13857Thr
NM_001256850.1:c.36646G>A NP_001243779.1:p.Ala12216Thr
NM_003319.4:c.14374G>A NP_003310.4:p.Ala4792Thr
NM_133378.4:c.33865G>A NP_596869.4:p.Ala11289Thr
NM_133432.3:c.14749G>A NP_597676.3:p.Ala4917Thr
NM_133437.4:c.14950G>A NP_597681.4:p.Ala4984Thr
ENST00000342175.10:c.14950G>A ENSP00000340554.6:p.Ala4984Thr
ENST00000342175.11:c.14950G>A ENSP00000340554.6:p.Ala4984Thr
ENST00000342992.10:c.33865G>A ENSP00000343764.6:p.Ala11289Thr
ENST00000342992.11:c.33865G>A ENSP00000343764.6:p.Ala11289Thr
ENST00000359218.10:c.14749G>A ENSP00000352154.5:p.Ala4917Thr
ENST00000359218.9:c.14749G>A ENSP00000352154.5:p.Ala4917Thr
ENST00000460472.6:c.14374G>A ENSP00000434586.1:p.Ala4792Thr
ENST00000591111.5:c.36646G>A ENSP00000465570.1:p.Ala12216Thr
ENST00000615779.4:c.36646G>A ENSP00000483597.1:p.Ala12216Thr
XM_011511729.1:c.40666G>A XP_011510031.1:p.Ala13556Thr
XM_011511730.1:c.14560G>A XP_011510032.1:p.Ala4854Thr
XM_011511731.1:c.14419G>A XP_011510033.1:p.Ala4807Thr
XM_017004819.1:c.40462G>A XP_016860308.1:p.Ala13488Thr
XM_017004820.1:c.35860G>A XP_016860309.1:p.Ala11954Thr
XM_017004821.1:c.35857G>A XP_016860310.1:p.Ala11953Thr
XM_017004822.1:c.32899G>A XP_016860311.1:p.Ala10967Thr
XM_017004823.1:c.14515G>A XP_016860312.1:p.Ala4839Thr
XM_024453094.1:c.36010G>A XP_024308862.1:p.Ala12004Thr
XM_024453095.1:c.36007G>A XP_024308863.1:p.Ala12003Thr
XM_024453096.1:c.35440G>A XP_024308864.1:p.Ala11814Thr
XM_024453097.1:c.32782G>A XP_024308865.1:p.Ala10928Thr
XM_024453098.1:c.32701G>A XP_024308866.1:p.Ala10901Thr
XM_024453099.1:c.14464G>A XP_024308867.1:p.Ala4822Thr
XM_024453100.1:c.4318G>A XP_024308868.1:p.Ala1440Thr