Canonical Allele Identifier: CA430242572
Community Standard Title: NM_001267550.2(TTN):c.94494A>G (p.Ser31498=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547031T>C , CM000664.2:g.178547031T>C GRCh38
NC_000002.11:g.179411758T>C , CM000664.1:g.179411758T>C GRCh37
NC_000002.10:g.179120004T>C NCBI36
NG_011618.3:g.288772A>G , LRG_391:g.288772A>G
NG_051363.1:g.29205T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.94494A>G (TTN) MANE Select NP_001254479.2:p.Ser31498=
ENST00000589042.5:c.94494A>G (TTN) MANE Select ENSP00000467141.1:p.Ser31498=
NM_001256850.1:c.89571A>G (TTN) NP_001243779.1:p.Ser29857=
NM_003319.4:c.67299A>G (TTN) NP_003310.4:p.Ser22433=
NM_133378.4:c.86790A>G (TTN) NP_596869.4:p.Ser28930=
NM_133432.3:c.67674A>G (TTN) NP_597676.3:p.Ser22558=
NM_133437.4:c.67875A>G (TTN) NP_597681.4:p.Ser22625=
NR_038271.1:n.446+23395T>C (TTN-AS1)
NR_038272.1:n.2043+4670T>C (TTN-AS1)
ENST00000342175.10:c.67875A>G (TTN) ENSP00000340554.6:p.Ser22625=
ENST00000342175.11:c.67875A>G (TTN) ENSP00000340554.6:p.Ser22625=
ENST00000342992.10:c.86790A>G (TTN) ENSP00000343764.6:p.Ser28930=
ENST00000342992.11:c.86790A>G (TTN) ENSP00000343764.6:p.Ser28930=
ENST00000359218.10:c.67674A>G (TTN) ENSP00000352154.5:p.Ser22558=
ENST00000359218.9:c.67674A>G (TTN) ENSP00000352154.5:p.Ser22558=
ENST00000460472.6:c.67299A>G (TTN) ENSP00000434586.1:p.Ser22433=
ENST00000591111.5:c.89571A>G (TTN) ENSP00000465570.1:p.Ser29857=
ENST00000615779.4:c.89571A>G (TTN) ENSP00000483597.1:p.Ser29857=
XM_011511729.1:c.93591A>G (TTN) XP_011510031.1:p.Ser31197=
XM_011511730.1:c.67485A>G (TTN) XP_011510032.1:p.Ser22495=
XM_011511731.1:c.67344A>G (TTN) XP_011510033.1:p.Ser22448=
XM_017004819.1:c.93387A>G (TTN) XP_016860308.1:p.Ser31129=
XM_017004820.1:c.88785A>G (TTN) XP_016860309.1:p.Ser29595=
XM_017004821.1:c.88782A>G (TTN) XP_016860310.1:p.Ser29594=
XM_017004822.1:c.85824A>G (TTN) XP_016860311.1:p.Ser28608=
XM_017004823.1:c.67440A>G (TTN) XP_016860312.1:p.Ser22480=
XM_024453094.1:c.88935A>G (TTN) XP_024308862.1:p.Ser29645=
XM_024453095.1:c.88932A>G (TTN) XP_024308863.1:p.Ser29644=
XM_024453096.1:c.88365A>G (TTN) XP_024308864.1:p.Ser29455=
XM_024453097.1:c.85707A>G (TTN) XP_024308865.1:p.Ser28569=
XM_024453098.1:c.85626A>G (TTN) XP_024308866.1:p.Ser28542=
XM_024453099.1:c.67389A>G (TTN) XP_024308867.1:p.Ser22463=
XM_024453100.1:c.57243A>G (TTN) XP_024308868.1:p.Ser19081=