Canonical Allele Identifier: CA349607240
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614548C>A , CM000664.2:g.178614548C>A GRCh38
NC_000002.11:g.179479275C>A , CM000664.1:g.179479275C>A GRCh37
NC_000002.10:g.179187520C>A NCBI36
NG_011618.3:g.221255G>T , LRG_391:g.221255G>T
NG_051363.1:g.96722C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41262G>T (TTN) ENSP00000343764.6:p.Lys13754Asn
ENST00000342175.11:c.22347G>T (TTN) ENSP00000340554.6:p.Lys7449Asn
ENST00000359218.10:c.22146G>T (TTN) ENSP00000352154.5:p.Lys7382Asn
ENST00000342175.10:c.22347G>T (TTN) ENSP00000340554.6:p.Lys7449Asn
ENST00000342992.10:c.41262G>T (TTN) ENSP00000343764.6:p.Lys13754Asn
ENST00000359218.9:c.22146G>T (TTN) ENSP00000352154.5:p.Lys7382Asn
ENST00000460472.6:c.21771G>T (TTN) ENSP00000434586.1:p.Lys7257Asn
ENST00000589042.5:c.48966G>T (TTN) MANE Select ENSP00000467141.1:p.Lys16322Asn
ENST00000591111.5:c.44043G>T (TTN) ENSP00000465570.1:p.Lys14681Asn
ENST00000615779.4:c.44043G>T (TTN) ENSP00000483597.1:p.Lys14681Asn
NM_001256850.1:c.44043G>T (TTN) NP_001243779.1:p.Lys14681Asn
NM_001267550.2:c.48966G>T (TTN) MANE Select NP_001254479.2:p.Lys16322Asn
NM_003319.4:c.21771G>T (TTN) NP_003310.4:p.Lys7257Asn
NM_133378.4:c.41262G>T (TTN) NP_596869.4:p.Lys13754Asn
NM_133432.3:c.22146G>T (TTN) NP_597676.3:p.Lys7382Asn
NM_133437.4:c.22347G>T (TTN) NP_597681.4:p.Lys7449Asn
NR_038271.1:n.1296C>A (TTN-AS1)
XM_011511729.1:c.48063G>T (TTN) XP_011510031.1:p.Lys16021Asn
XM_011511730.1:c.21957G>T (TTN) XP_011510032.1:p.Lys7319Asn
XM_011511731.1:c.21816G>T (TTN) XP_011510033.1:p.Lys7272Asn
XM_017004819.1:c.47859G>T (TTN) XP_016860308.1:p.Lys15953Asn
XM_017004820.1:c.43257G>T (TTN) XP_016860309.1:p.Lys14419Asn
XM_017004821.1:c.43254G>T (TTN) XP_016860310.1:p.Lys14418Asn
XM_017004822.1:c.40296G>T (TTN) XP_016860311.1:p.Lys13432Asn
XM_017004823.1:c.21912G>T (TTN) XP_016860312.1:p.Lys7304Asn
XM_024453094.1:c.43407G>T (TTN) XP_024308862.1:p.Lys14469Asn
XM_024453095.1:c.43404G>T (TTN) XP_024308863.1:p.Lys14468Asn
XM_024453096.1:c.42837G>T (TTN) XP_024308864.1:p.Lys14279Asn
XM_024453097.1:c.40179G>T (TTN) XP_024308865.1:p.Lys13393Asn
XM_024453098.1:c.40098G>T (TTN) XP_024308866.1:p.Lys13366Asn
XM_024453099.1:c.21861G>T (TTN) XP_024308867.1:p.Lys7287Asn
XM_024453100.1:c.11715G>T (TTN) XP_024308868.1:p.Lys3905Asn