Canonical Allele Identifier: CA349439275

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178585228C>A , CM000664.2:g.178585228C>A	GRCh38
NC_000002.11:g.179449955C>A , CM000664.1:g.179449955C>A	GRCh37
NC_000002.10:g.179158201C>A	NCBI36
NG_011618.3:g.250575G>T , LRG_391:g.250575G>T
NG_051363.1:g.67402C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.64516G>T (TTN) MANE Select	NP_001254479.2:p.Glu21506Ter
ENST00000589042.5:c.64516G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu21506Ter
NM_001256850.1:c.59593G>T (TTN)	NP_001243779.1:p.Glu19865Ter
NM_003319.4:c.37321G>T (TTN)	NP_003310.4:p.Glu12441Ter
NM_133378.4:c.56812G>T (TTN)	NP_596869.4:p.Glu18938Ter
NM_133432.3:c.37696G>T (TTN)	NP_597676.3:p.Glu12566Ter
NM_133437.4:c.37897G>T (TTN)	NP_597681.4:p.Glu12633Ter
NR_038271.1:n.597-12368C>A (TTN-AS1)
NR_038272.1:n.3188+235C>A (TTN-AS1)
ENST00000342175.10:c.37897G>T (TTN)	ENSP00000340554.6:p.Glu12633Ter
ENST00000342175.11:c.37897G>T (TTN)	ENSP00000340554.6:p.Glu12633Ter
ENST00000342992.10:c.56812G>T (TTN)	ENSP00000343764.6:p.Glu18938Ter
ENST00000342992.11:c.56812G>T (TTN)	ENSP00000343764.6:p.Glu18938Ter
ENST00000359218.10:c.37696G>T (TTN)	ENSP00000352154.5:p.Glu12566Ter
ENST00000359218.9:c.37696G>T (TTN)	ENSP00000352154.5:p.Glu12566Ter
ENST00000460472.6:c.37321G>T (TTN)	ENSP00000434586.1:p.Glu12441Ter
ENST00000591111.5:c.59593G>T (TTN)	ENSP00000465570.1:p.Glu19865Ter
ENST00000615779.4:c.59593G>T (TTN)	ENSP00000483597.1:p.Glu19865Ter
XM_011511729.1:c.63613G>T (TTN)	XP_011510031.1:p.Glu21205Ter
XM_011511730.1:c.37507G>T (TTN)	XP_011510032.1:p.Glu12503Ter
XM_011511731.1:c.37366G>T (TTN)	XP_011510033.1:p.Glu12456Ter
XM_017004819.1:c.63409G>T (TTN)	XP_016860308.1:p.Glu21137Ter
XM_017004820.1:c.58807G>T (TTN)	XP_016860309.1:p.Glu19603Ter
XM_017004821.1:c.58804G>T (TTN)	XP_016860310.1:p.Glu19602Ter
XM_017004822.1:c.55846G>T (TTN)	XP_016860311.1:p.Glu18616Ter
XM_017004823.1:c.37462G>T (TTN)	XP_016860312.1:p.Glu12488Ter
XM_024453094.1:c.58957G>T (TTN)	XP_024308862.1:p.Glu19653Ter
XM_024453095.1:c.58954G>T (TTN)	XP_024308863.1:p.Glu19652Ter
XM_024453096.1:c.58387G>T (TTN)	XP_024308864.1:p.Glu19463Ter
XM_024453097.1:c.55729G>T (TTN)	XP_024308865.1:p.Glu18577Ter
XM_024453098.1:c.55648G>T (TTN)	XP_024308866.1:p.Glu18550Ter
XM_024453099.1:c.37411G>T (TTN)	XP_024308867.1:p.Glu12471Ter
XM_024453100.1:c.27265G>T (TTN)	XP_024308868.1:p.Glu9089Ter