Canonical Allele Identifier: CA1994714
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614544T>G , CM000664.2:g.178614544T>G GRCh38
NC_000002.11:g.179479271T>G , CM000664.1:g.179479271T>G GRCh37
NC_000002.10:g.179187516T>G NCBI36
NG_011618.3:g.221259A>C , LRG_391:g.221259A>C
NG_051363.1:g.96718T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41266A>C (TTN) ENSP00000343764.6:p.Ser13756Arg
ENST00000342175.11:c.22351A>C (TTN) ENSP00000340554.6:p.Ser7451Arg
ENST00000359218.10:c.22150A>C (TTN) ENSP00000352154.5:p.Ser7384Arg
ENST00000342175.10:c.22351A>C (TTN) ENSP00000340554.6:p.Ser7451Arg
ENST00000342992.10:c.41266A>C (TTN) ENSP00000343764.6:p.Ser13756Arg
ENST00000359218.9:c.22150A>C (TTN) ENSP00000352154.5:p.Ser7384Arg
ENST00000460472.6:c.21775A>C (TTN) ENSP00000434586.1:p.Ser7259Arg
ENST00000589042.5:c.48970A>C (TTN) MANE Select ENSP00000467141.1:p.Ser16324Arg
ENST00000591111.5:c.44047A>C (TTN) ENSP00000465570.1:p.Ser14683Arg
ENST00000615779.4:c.44047A>C (TTN) ENSP00000483597.1:p.Ser14683Arg
NM_001256850.1:c.44047A>C (TTN) NP_001243779.1:p.Ser14683Arg
NM_001267550.2:c.48970A>C (TTN) MANE Select NP_001254479.2:p.Ser16324Arg
NM_003319.4:c.21775A>C (TTN) NP_003310.4:p.Ser7259Arg
NM_133378.4:c.41266A>C (TTN) NP_596869.4:p.Ser13756Arg
NM_133432.3:c.22150A>C (TTN) NP_597676.3:p.Ser7384Arg
NM_133437.4:c.22351A>C (TTN) NP_597681.4:p.Ser7451Arg
NR_038271.1:n.1292T>G (TTN-AS1)
XM_011511729.1:c.48067A>C (TTN) XP_011510031.1:p.Ser16023Arg
XM_011511730.1:c.21961A>C (TTN) XP_011510032.1:p.Ser7321Arg
XM_011511731.1:c.21820A>C (TTN) XP_011510033.1:p.Ser7274Arg
XM_017004819.1:c.47863A>C (TTN) XP_016860308.1:p.Ser15955Arg
XM_017004820.1:c.43261A>C (TTN) XP_016860309.1:p.Ser14421Arg
XM_017004821.1:c.43258A>C (TTN) XP_016860310.1:p.Ser14420Arg
XM_017004822.1:c.40300A>C (TTN) XP_016860311.1:p.Ser13434Arg
XM_017004823.1:c.21916A>C (TTN) XP_016860312.1:p.Ser7306Arg
XM_024453094.1:c.43411A>C (TTN) XP_024308862.1:p.Ser14471Arg
XM_024453095.1:c.43408A>C (TTN) XP_024308863.1:p.Ser14470Arg
XM_024453096.1:c.42841A>C (TTN) XP_024308864.1:p.Ser14281Arg
XM_024453097.1:c.40183A>C (TTN) XP_024308865.1:p.Ser13395Arg
XM_024453098.1:c.40102A>C (TTN) XP_024308866.1:p.Ser13368Arg
XM_024453099.1:c.21865A>C (TTN) XP_024308867.1:p.Ser7289Arg
XM_024453100.1:c.11719A>C (TTN) XP_024308868.1:p.Ser3907Arg