Canonical Allele Identifier: CA349471312

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411471T>G (hg19) ; chr2:g.178546744T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546744T>G , CM000664.2:g.178546744T>G	GRCh38
NC_000002.11:g.179411471T>G , CM000664.1:g.179411471T>G	GRCh37
NC_000002.10:g.179119717T>G	NCBI36
NG_011618.3:g.289059A>C , LRG_391:g.289059A>C
NG_051363.1:g.28918T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86980A>C (TTN)	ENSP00000343764.6:p.Thr28994Pro
ENST00000342175.11:c.68065A>C (TTN)	ENSP00000340554.6:p.Thr22689Pro
ENST00000359218.10:c.67864A>C (TTN)	ENSP00000352154.5:p.Thr22622Pro
ENST00000342175.10:c.68065A>C (TTN)	ENSP00000340554.6:p.Thr22689Pro
ENST00000342992.10:c.86980A>C (TTN)	ENSP00000343764.6:p.Thr28994Pro
ENST00000359218.9:c.67864A>C (TTN)	ENSP00000352154.5:p.Thr22622Pro
ENST00000460472.6:c.67489A>C (TTN)	ENSP00000434586.1:p.Thr22497Pro
ENST00000589042.5:c.94684A>C (TTN) MANE Select	ENSP00000467141.1:p.Thr31562Pro
ENST00000591111.5:c.89761A>C (TTN)	ENSP00000465570.1:p.Thr29921Pro
ENST00000615779.4:c.89761A>C (TTN)	ENSP00000483597.1:p.Thr29921Pro
NM_001256850.1:c.89761A>C (TTN)	NP_001243779.1:p.Thr29921Pro
NM_001267550.2:c.94684A>C (TTN) MANE Select	NP_001254479.2:p.Thr31562Pro
NM_003319.4:c.67489A>C (TTN)	NP_003310.4:p.Thr22497Pro
NM_133378.4:c.86980A>C (TTN)	NP_596869.4:p.Thr28994Pro
NM_133432.3:c.67864A>C (TTN)	NP_597676.3:p.Thr22622Pro
NM_133437.4:c.68065A>C (TTN)	NP_597681.4:p.Thr22689Pro
NR_038271.1:n.446+23108T>G (TTN-AS1)
NR_038272.1:n.2043+4383T>G (TTN-AS1)
XM_011511729.1:c.93781A>C (TTN)	XP_011510031.1:p.Thr31261Pro
XM_011511730.1:c.67675A>C (TTN)	XP_011510032.1:p.Thr22559Pro
XM_011511731.1:c.67534A>C (TTN)	XP_011510033.1:p.Thr22512Pro
XM_017004819.1:c.93577A>C (TTN)	XP_016860308.1:p.Thr31193Pro
XM_017004820.1:c.88975A>C (TTN)	XP_016860309.1:p.Thr29659Pro
XM_017004821.1:c.88972A>C (TTN)	XP_016860310.1:p.Thr29658Pro
XM_017004822.1:c.86014A>C (TTN)	XP_016860311.1:p.Thr28672Pro
XM_017004823.1:c.67630A>C (TTN)	XP_016860312.1:p.Thr22544Pro
XM_024453094.1:c.89125A>C (TTN)	XP_024308862.1:p.Thr29709Pro
XM_024453095.1:c.89122A>C (TTN)	XP_024308863.1:p.Thr29708Pro
XM_024453096.1:c.88555A>C (TTN)	XP_024308864.1:p.Thr29519Pro
XM_024453097.1:c.85897A>C (TTN)	XP_024308865.1:p.Thr28633Pro
XM_024453098.1:c.85816A>C (TTN)	XP_024308866.1:p.Thr28606Pro
XM_024453099.1:c.67579A>C (TTN)	XP_024308867.1:p.Thr22527Pro
XM_024453100.1:c.57433A>C (TTN)	XP_024308868.1:p.Thr19145Pro