Canonical Allele Identifier: CA1985900

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178535288G>A , CM000664.2:g.178535288G>A	GRCh38
NC_000002.11:g.179400015G>A , CM000664.1:g.179400015G>A	GRCh37
NC_000002.10:g.179108261G>A	NCBI36
NG_011618.3:g.300515C>T , LRG_391:g.300515C>T
NG_051363.1:g.17462G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.101327C>T (TTN) MANE Select	NP_001254479.2:p.Pro33776Leu
ENST00000589042.5:c.101327C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro33776Leu
NM_001256850.1:c.96404C>T (TTN)	NP_001243779.1:p.Pro32135Leu
NM_003319.4:c.74132C>T (TTN)	NP_003310.4:p.Pro24711Leu
NM_133378.4:c.93623C>T (TTN)	NP_596869.4:p.Pro31208Leu
NM_133432.3:c.74507C>T (TTN)	NP_597676.3:p.Pro24836Leu
NM_133437.4:c.74708C>T (TTN)	NP_597681.4:p.Pro24903Leu
NR_038271.1:n.446+11652G>A (TTN-AS1)
NR_038272.1:n.220-444G>A (TTN-AS1)
ENST00000342175.10:c.74708C>T (TTN)	ENSP00000340554.6:p.Pro24903Leu
ENST00000342175.11:c.74708C>T (TTN)	ENSP00000340554.6:p.Pro24903Leu
ENST00000342992.10:c.93623C>T (TTN)	ENSP00000343764.6:p.Pro31208Leu
ENST00000342992.11:c.93623C>T (TTN)	ENSP00000343764.6:p.Pro31208Leu
ENST00000359218.10:c.74507C>T (TTN)	ENSP00000352154.5:p.Pro24836Leu
ENST00000359218.9:c.74507C>T (TTN)	ENSP00000352154.5:p.Pro24836Leu
ENST00000460472.6:c.74132C>T (TTN)	ENSP00000434586.1:p.Pro24711Leu
ENST00000591111.5:c.96404C>T (TTN)	ENSP00000465570.1:p.Pro32135Leu
ENST00000615779.4:c.96404C>T (TTN)	ENSP00000483597.1:p.Pro32135Leu
XM_011511729.1:c.100424C>T (TTN)	XP_011510031.1:p.Pro33475Leu
XM_011511730.1:c.74318C>T (TTN)	XP_011510032.1:p.Pro24773Leu
XM_011511731.1:c.74177C>T (TTN)	XP_011510033.1:p.Pro24726Leu
XM_017004819.1:c.100220C>T (TTN)	XP_016860308.1:p.Pro33407Leu
XM_017004820.1:c.95618C>T (TTN)	XP_016860309.1:p.Pro31873Leu
XM_017004821.1:c.95615C>T (TTN)	XP_016860310.1:p.Pro31872Leu
XM_017004822.1:c.92657C>T (TTN)	XP_016860311.1:p.Pro30886Leu
XM_017004823.1:c.74273C>T (TTN)	XP_016860312.1:p.Pro24758Leu
XM_024453094.1:c.95768C>T (TTN)	XP_024308862.1:p.Pro31923Leu
XM_024453095.1:c.95765C>T (TTN)	XP_024308863.1:p.Pro31922Leu
XM_024453096.1:c.95198C>T (TTN)	XP_024308864.1:p.Pro31733Leu
XM_024453097.1:c.92540C>T (TTN)	XP_024308865.1:p.Pro30847Leu
XM_024453098.1:c.92459C>T (TTN)	XP_024308866.1:p.Pro30820Leu
XM_024453099.1:c.74222C>T (TTN)	XP_024308867.1:p.Pro24741Leu
XM_024453100.1:c.64076C>T (TTN)	XP_024308868.1:p.Pro21359Leu