Canonical Allele Identifier: CA1991471
Community Standard Title: NM_001267550.2(TTN):c.66600C>T (p.Ser22200=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178581668G>A , CM000664.2:g.178581668G>A GRCh38
NC_000002.11:g.179446395G>A , CM000664.1:g.179446395G>A GRCh37
NC_000002.10:g.179154641G>A NCBI36
NG_011618.3:g.254135C>T , LRG_391:g.254135C>T
NG_051363.1:g.63842G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.66600C>T (TTN) MANE Select NP_001254479.2:p.Ser22200=
ENST00000589042.5:c.66600C>T (TTN) MANE Select ENSP00000467141.1:p.Ser22200=
NM_001256850.1:c.61677C>T (TTN) NP_001243779.1:p.Ser20559=
NM_003319.4:c.39405C>T (TTN) NP_003310.4:p.Ser13135=
NM_133378.4:c.58896C>T (TTN) NP_596869.4:p.Ser19632=
NM_133432.3:c.39780C>T (TTN) NP_597676.3:p.Ser13260=
NM_133437.4:c.39981C>T (TTN) NP_597681.4:p.Ser13327=
NR_038271.1:n.596+10219G>A (TTN-AS1)
NR_038272.1:n.2044-904G>A (TTN-AS1)
ENST00000342175.10:c.39981C>T (TTN) ENSP00000340554.6:p.Ser13327=
ENST00000342175.11:c.39981C>T (TTN) ENSP00000340554.6:p.Ser13327=
ENST00000342992.10:c.58896C>T (TTN) ENSP00000343764.6:p.Ser19632=
ENST00000342992.11:c.58896C>T (TTN) ENSP00000343764.6:p.Ser19632=
ENST00000359218.10:c.39780C>T (TTN) ENSP00000352154.5:p.Ser13260=
ENST00000359218.9:c.39780C>T (TTN) ENSP00000352154.5:p.Ser13260=
ENST00000460472.6:c.39405C>T (TTN) ENSP00000434586.1:p.Ser13135=
ENST00000591111.5:c.61677C>T (TTN) ENSP00000465570.1:p.Ser20559=
ENST00000615779.4:c.61677C>T (TTN) ENSP00000483597.1:p.Ser20559=
XM_011511729.1:c.65697C>T (TTN) XP_011510031.1:p.Ser21899=
XM_011511730.1:c.39591C>T (TTN) XP_011510032.1:p.Ser13197=
XM_011511731.1:c.39450C>T (TTN) XP_011510033.1:p.Ser13150=
XM_017004819.1:c.65493C>T (TTN) XP_016860308.1:p.Ser21831=
XM_017004820.1:c.60891C>T (TTN) XP_016860309.1:p.Ser20297=
XM_017004821.1:c.60888C>T (TTN) XP_016860310.1:p.Ser20296=
XM_017004822.1:c.57930C>T (TTN) XP_016860311.1:p.Ser19310=
XM_017004823.1:c.39546C>T (TTN) XP_016860312.1:p.Ser13182=
XM_024453094.1:c.61041C>T (TTN) XP_024308862.1:p.Ser20347=
XM_024453095.1:c.61038C>T (TTN) XP_024308863.1:p.Ser20346=
XM_024453096.1:c.60471C>T (TTN) XP_024308864.1:p.Ser20157=
XM_024453097.1:c.57813C>T (TTN) XP_024308865.1:p.Ser19271=
XM_024453098.1:c.57732C>T (TTN) XP_024308866.1:p.Ser19244=
XM_024453099.1:c.39495C>T (TTN) XP_024308867.1:p.Ser13165=
XM_024453100.1:c.29349C>T (TTN) XP_024308868.1:p.Ser9783=