Canonical Allele Identifier: CA349572593

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178608279A>C , CM000664.2:g.178608279A>C	GRCh38
NC_000002.11:g.179473006A>C , CM000664.1:g.179473006A>C	GRCh37
NC_000002.10:g.179181251A>C	NCBI36
NG_011618.3:g.227524T>G , LRG_391:g.227524T>G
NG_051363.1:g.90453A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.52604T>G (TTN) MANE Select	NP_001254479.2:p.Leu17535Ter
ENST00000589042.5:c.52604T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu17535Ter
NM_001256850.1:c.47681T>G (TTN)	NP_001243779.1:p.Leu15894Ter
NM_003319.4:c.25409T>G (TTN)	NP_003310.4:p.Leu8470Ter
NM_133378.4:c.44900T>G (TTN)	NP_596869.4:p.Leu14967Ter
NM_133432.3:c.25784T>G (TTN)	NP_597676.3:p.Leu8595Ter
NM_133437.4:c.25985T>G (TTN)	NP_597681.4:p.Leu8662Ter
NR_038271.1:n.782+13A>C (TTN-AS1)
ENST00000342175.10:c.25985T>G (TTN)	ENSP00000340554.6:p.Leu8662Ter
ENST00000342175.11:c.25985T>G (TTN)	ENSP00000340554.6:p.Leu8662Ter
ENST00000342992.10:c.44900T>G (TTN)	ENSP00000343764.6:p.Leu14967Ter
ENST00000342992.11:c.44900T>G (TTN)	ENSP00000343764.6:p.Leu14967Ter
ENST00000359218.10:c.25784T>G (TTN)	ENSP00000352154.5:p.Leu8595Ter
ENST00000359218.9:c.25784T>G (TTN)	ENSP00000352154.5:p.Leu8595Ter
ENST00000460472.6:c.25409T>G (TTN)	ENSP00000434586.1:p.Leu8470Ter
ENST00000591111.5:c.47681T>G (TTN)	ENSP00000465570.1:p.Leu15894Ter
ENST00000615779.4:c.47681T>G (TTN)	ENSP00000483597.1:p.Leu15894Ter
XM_011511729.1:c.51701T>G (TTN)	XP_011510031.1:p.Leu17234Ter
XM_011511730.1:c.25595T>G (TTN)	XP_011510032.1:p.Leu8532Ter
XM_011511731.1:c.25454T>G (TTN)	XP_011510033.1:p.Leu8485Ter
XM_017004819.1:c.51497T>G (TTN)	XP_016860308.1:p.Leu17166Ter
XM_017004820.1:c.46895T>G (TTN)	XP_016860309.1:p.Leu15632Ter
XM_017004821.1:c.46892T>G (TTN)	XP_016860310.1:p.Leu15631Ter
XM_017004822.1:c.43934T>G (TTN)	XP_016860311.1:p.Leu14645Ter
XM_017004823.1:c.25550T>G (TTN)	XP_016860312.1:p.Leu8517Ter
XM_024453094.1:c.47045T>G (TTN)	XP_024308862.1:p.Leu15682Ter
XM_024453095.1:c.47042T>G (TTN)	XP_024308863.1:p.Leu15681Ter
XM_024453096.1:c.46475T>G (TTN)	XP_024308864.1:p.Leu15492Ter
XM_024453097.1:c.43817T>G (TTN)	XP_024308865.1:p.Leu14606Ter
XM_024453098.1:c.43736T>G (TTN)	XP_024308866.1:p.Leu14579Ter
XM_024453099.1:c.25499T>G (TTN)	XP_024308867.1:p.Leu8500Ter
XM_024453100.1:c.15353T>G (TTN)	XP_024308868.1:p.Leu5118Ter