Canonical Allele Identifier: CA349411583

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396856G>A (hg19) ; chr2:g.178532129G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532129G>A , CM000664.2:g.178532129G>A	GRCh38
NC_000002.11:g.179396856G>A , CM000664.1:g.179396856G>A	GRCh37
NC_000002.10:g.179105102G>A	NCBI36
NG_011618.3:g.303674C>T , LRG_391:g.303674C>T
NG_051363.1:g.14303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96782C>T (TTN)	ENSP00000343764.6:p.Ser32261Leu
ENST00000342175.11:c.77867C>T (TTN)	ENSP00000340554.6:p.Ser25956Leu
ENST00000359218.10:c.77666C>T (TTN)	ENSP00000352154.5:p.Ser25889Leu
ENST00000342175.10:c.77867C>T (TTN)	ENSP00000340554.6:p.Ser25956Leu
ENST00000342992.10:c.96782C>T (TTN)	ENSP00000343764.6:p.Ser32261Leu
ENST00000359218.9:c.77666C>T (TTN)	ENSP00000352154.5:p.Ser25889Leu
ENST00000460472.6:c.77291C>T (TTN)	ENSP00000434586.1:p.Ser25764Leu
ENST00000589042.5:c.104486C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser34829Leu
ENST00000591111.5:c.99563C>T (TTN)	ENSP00000465570.1:p.Ser33188Leu
ENST00000615779.4:c.99563C>T (TTN)	ENSP00000483597.1:p.Ser33188Leu
NM_001256850.1:c.99563C>T (TTN)	NP_001243779.1:p.Ser33188Leu
NM_001267550.2:c.104486C>T (TTN) MANE Select	NP_001254479.2:p.Ser34829Leu
NM_003319.4:c.77291C>T (TTN)	NP_003310.4:p.Ser25764Leu
NM_133378.4:c.96782C>T (TTN)	NP_596869.4:p.Ser32261Leu
NM_133432.3:c.77666C>T (TTN)	NP_597676.3:p.Ser25889Leu
NM_133437.4:c.77867C>T (TTN)	NP_597681.4:p.Ser25956Leu
NR_038271.1:n.446+8493G>A (TTN-AS1)
NR_038272.1:n.220-3603G>A (TTN-AS1)
XM_011511729.1:c.103583C>T (TTN)	XP_011510031.1:p.Ser34528Leu
XM_011511730.1:c.77477C>T (TTN)	XP_011510032.1:p.Ser25826Leu
XM_011511731.1:c.77336C>T (TTN)	XP_011510033.1:p.Ser25779Leu
XM_017004819.1:c.103379C>T (TTN)	XP_016860308.1:p.Ser34460Leu
XM_017004820.1:c.98777C>T (TTN)	XP_016860309.1:p.Ser32926Leu
XM_017004821.1:c.98774C>T (TTN)	XP_016860310.1:p.Ser32925Leu
XM_017004822.1:c.95816C>T (TTN)	XP_016860311.1:p.Ser31939Leu
XM_017004823.1:c.77432C>T (TTN)	XP_016860312.1:p.Ser25811Leu
XM_024453094.1:c.98927C>T (TTN)	XP_024308862.1:p.Ser32976Leu
XM_024453095.1:c.98924C>T (TTN)	XP_024308863.1:p.Ser32975Leu
XM_024453096.1:c.98357C>T (TTN)	XP_024308864.1:p.Ser32786Leu
XM_024453097.1:c.95699C>T (TTN)	XP_024308865.1:p.Ser31900Leu
XM_024453098.1:c.95618C>T (TTN)	XP_024308866.1:p.Ser31873Leu
XM_024453099.1:c.77381C>T (TTN)	XP_024308867.1:p.Ser25794Leu
XM_024453100.1:c.67235C>T (TTN)	XP_024308868.1:p.Ser22412Leu