Canonical Allele Identifier: CA349406963

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395210C>A (hg19) ; chr2:g.178530483C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98428G>T (TTN)	ENSP00000343764.6:p.Ala32810Ser
ENST00000342175.11:c.79513G>T (TTN)	ENSP00000340554.6:p.Ala26505Ser
ENST00000359218.10:c.79312G>T (TTN)	ENSP00000352154.5:p.Ala26438Ser
ENST00000342175.10:c.79513G>T (TTN)	ENSP00000340554.6:p.Ala26505Ser
ENST00000342992.10:c.98428G>T (TTN)	ENSP00000343764.6:p.Ala32810Ser
ENST00000359218.9:c.79312G>T (TTN)	ENSP00000352154.5:p.Ala26438Ser
ENST00000460472.6:c.78937G>T (TTN)	ENSP00000434586.1:p.Ala26313Ser
ENST00000589042.5:c.106132G>T (TTN) MANE Select	ENSP00000467141.1:p.Ala35378Ser
ENST00000591111.5:c.101209G>T (TTN)	ENSP00000465570.1:p.Ala33737Ser
ENST00000615779.4:c.101209G>T (TTN)	ENSP00000483597.1:p.Ala33737Ser
NM_001256850.1:c.101209G>T (TTN)	NP_001243779.1:p.Ala33737Ser
NM_001267550.2:c.106132G>T (TTN) MANE Select	NP_001254479.2:p.Ala35378Ser
NM_003319.4:c.78937G>T (TTN)	NP_003310.4:p.Ala26313Ser
NM_133378.4:c.98428G>T (TTN)	NP_596869.4:p.Ala32810Ser
NM_133432.3:c.79312G>T (TTN)	NP_597676.3:p.Ala26438Ser
NM_133437.4:c.79513G>T (TTN)	NP_597681.4:p.Ala26505Ser
NR_038271.1:n.446+6847C>A (TTN-AS1)
NR_038272.1:n.220-5249C>A (TTN-AS1)
XM_011511729.1:c.105229G>T (TTN)	XP_011510031.1:p.Ala35077Ser
XM_011511730.1:c.79123G>T (TTN)	XP_011510032.1:p.Ala26375Ser
XM_011511731.1:c.78982G>T (TTN)	XP_011510033.1:p.Ala26328Ser
XM_017004819.1:c.105025G>T (TTN)	XP_016860308.1:p.Ala35009Ser
XM_017004820.1:c.100423G>T (TTN)	XP_016860309.1:p.Ala33475Ser
XM_017004821.1:c.100420G>T (TTN)	XP_016860310.1:p.Ala33474Ser
XM_017004822.1:c.97462G>T (TTN)	XP_016860311.1:p.Ala32488Ser
XM_017004823.1:c.79078G>T (TTN)	XP_016860312.1:p.Ala26360Ser
XM_024453094.1:c.100573G>T (TTN)	XP_024308862.1:p.Ala33525Ser
XM_024453095.1:c.100570G>T (TTN)	XP_024308863.1:p.Ala33524Ser
XM_024453096.1:c.100003G>T (TTN)	XP_024308864.1:p.Ala33335Ser
XM_024453097.1:c.97345G>T (TTN)	XP_024308865.1:p.Ala32449Ser
XM_024453098.1:c.97264G>T (TTN)	XP_024308866.1:p.Ala32422Ser
XM_024453099.1:c.79027G>T (TTN)	XP_024308867.1:p.Ala26343Ser
XM_024453100.1:c.68881G>T (TTN)	XP_024308868.1:p.Ala22961Ser