Canonical Allele Identifier: CA349406965

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530483-C-T
• MyVariant Identifiers: chr2:g.179395210C>T (hg19) ; chr2:g.178530483C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530483C>T , CM000664.2:g.178530483C>T	GRCh38
NC_000002.11:g.179395210C>T , CM000664.1:g.179395210C>T	GRCh37
NC_000002.10:g.179103456C>T	NCBI36
NG_011618.3:g.305320G>A , LRG_391:g.305320G>A
NG_051363.1:g.12657C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98428G>A (TTN)	ENSP00000343764.6:p.Ala32810Thr
ENST00000342175.11:c.79513G>A (TTN)	ENSP00000340554.6:p.Ala26505Thr
ENST00000359218.10:c.79312G>A (TTN)	ENSP00000352154.5:p.Ala26438Thr
ENST00000342175.10:c.79513G>A (TTN)	ENSP00000340554.6:p.Ala26505Thr
ENST00000342992.10:c.98428G>A (TTN)	ENSP00000343764.6:p.Ala32810Thr
ENST00000359218.9:c.79312G>A (TTN)	ENSP00000352154.5:p.Ala26438Thr
ENST00000460472.6:c.78937G>A (TTN)	ENSP00000434586.1:p.Ala26313Thr
ENST00000589042.5:c.106132G>A (TTN) MANE Select	ENSP00000467141.1:p.Ala35378Thr
ENST00000591111.5:c.101209G>A (TTN)	ENSP00000465570.1:p.Ala33737Thr
ENST00000615779.4:c.101209G>A (TTN)	ENSP00000483597.1:p.Ala33737Thr
NM_001256850.1:c.101209G>A (TTN)	NP_001243779.1:p.Ala33737Thr
NM_001267550.2:c.106132G>A (TTN) MANE Select	NP_001254479.2:p.Ala35378Thr
NM_003319.4:c.78937G>A (TTN)	NP_003310.4:p.Ala26313Thr
NM_133378.4:c.98428G>A (TTN)	NP_596869.4:p.Ala32810Thr
NM_133432.3:c.79312G>A (TTN)	NP_597676.3:p.Ala26438Thr
NM_133437.4:c.79513G>A (TTN)	NP_597681.4:p.Ala26505Thr
NR_038271.1:n.446+6847C>T (TTN-AS1)
NR_038272.1:n.220-5249C>T (TTN-AS1)
XM_011511729.1:c.105229G>A (TTN)	XP_011510031.1:p.Ala35077Thr
XM_011511730.1:c.79123G>A (TTN)	XP_011510032.1:p.Ala26375Thr
XM_011511731.1:c.78982G>A (TTN)	XP_011510033.1:p.Ala26328Thr
XM_017004819.1:c.105025G>A (TTN)	XP_016860308.1:p.Ala35009Thr
XM_017004820.1:c.100423G>A (TTN)	XP_016860309.1:p.Ala33475Thr
XM_017004821.1:c.100420G>A (TTN)	XP_016860310.1:p.Ala33474Thr
XM_017004822.1:c.97462G>A (TTN)	XP_016860311.1:p.Ala32488Thr
XM_017004823.1:c.79078G>A (TTN)	XP_016860312.1:p.Ala26360Thr
XM_024453094.1:c.100573G>A (TTN)	XP_024308862.1:p.Ala33525Thr
XM_024453095.1:c.100570G>A (TTN)	XP_024308863.1:p.Ala33524Thr
XM_024453096.1:c.100003G>A (TTN)	XP_024308864.1:p.Ala33335Thr
XM_024453097.1:c.97345G>A (TTN)	XP_024308865.1:p.Ala32449Thr
XM_024453098.1:c.97264G>A (TTN)	XP_024308866.1:p.Ala32422Thr
XM_024453099.1:c.79027G>A (TTN)	XP_024308867.1:p.Ala26343Thr
XM_024453100.1:c.68881G>A (TTN)	XP_024308868.1:p.Ala22961Thr