Canonical Allele Identifier: CA430240553

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM1631492 ; COSM1631493 ; COSM1631494 ; COSM1631495
• MyVariant Identifiers: chr2:g.179404788G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178540061G>A , CM000664.2:g.178540061G>A	GRCh38
NC_000002.11:g.179404788G>A , CM000664.1:g.179404788G>A	GRCh37
NC_000002.10:g.179113034G>A	NCBI36
NG_011618.3:g.295742C>T , LRG_391:g.295742C>T
NG_051363.1:g.22235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.90394+7C>T (TTN)	ENSP00000343764.6:n.90394+7C>T
ENST00000342175.11:c.71479+7C>T (TTN)	ENSP00000340554.6:n.71479+7C>T
ENST00000359218.10:c.71278+7C>T (TTN)	ENSP00000352154.5:n.71278+7C>T
ENST00000342175.10:c.71479+7C>T (TTN)	ENSP00000340554.6:n.71479+7C>T
ENST00000342992.10:c.90394+7C>T (TTN)	ENSP00000343764.6:n.90394+7C>T
ENST00000359218.9:c.71278+7C>T (TTN)	ENSP00000352154.5:n.71278+7C>T
ENST00000460472.6:c.70903+7C>T (TTN)	ENSP00000434586.1:n.70903+7C>T
ENST00000589042.5:c.98098+7C>T (TTN) MANE Select	ENSP00000467141.1:n.98098+7C>T
ENST00000591111.5:c.93175+7C>T (TTN)	ENSP00000465570.1:n.93175+7C>T
ENST00000615779.4:c.93175+7C>T (TTN)	ENSP00000483597.1:n.93175+7C>T
NM_001256850.1:c.93175+7C>T (TTN)	NP_001243779.1:n.93175+7C>T
NM_001267550.2:c.98098+7C>T (TTN) MANE Select	NP_001254479.2:n.98098+7C>T
NM_003319.4:c.70903+7C>T (TTN)	NP_003310.4:n.70903+7C>T
NM_133378.4:c.90394+7C>T (TTN)	NP_596869.4:n.90394+7C>T
NM_133432.3:c.71278+7C>T (TTN)	NP_597676.3:n.71278+7C>T
NM_133437.4:c.71479+7C>T (TTN)	NP_597681.4:n.71479+7C>T
NR_038271.1:n.446+16425G>A (TTN-AS1)
NR_038272.1:n.1841-46G>A (TTN-AS1)
XM_011511729.1:c.97195+7C>T (TTN)	XP_011510031.1:n.97195+7C>T
XM_011511730.1:c.71089+7C>T (TTN)	XP_011510032.1:n.71089+7C>T
XM_011511731.1:c.70948+7C>T (TTN)	XP_011510033.1:n.70948+7C>T
XM_017004819.1:c.96991+7C>T (TTN)	XP_016860308.1:n.96991+7C>T
XM_017004820.1:c.92389+7C>T (TTN)	XP_016860309.1:n.92389+7C>T
XM_017004821.1:c.92386+7C>T (TTN)	XP_016860310.1:n.92386+7C>T
XM_017004822.1:c.89428+7C>T (TTN)	XP_016860311.1:n.89428+7C>T
XM_017004823.1:c.71044+7C>T (TTN)	XP_016860312.1:n.71044+7C>T
XM_024453094.1:c.92539+7C>T (TTN)	XP_024308862.1:n.92539+7C>T
XM_024453095.1:c.92536+7C>T (TTN)	XP_024308863.1:n.92536+7C>T
XM_024453096.1:c.91969+7C>T (TTN)	XP_024308864.1:n.91969+7C>T
XM_024453097.1:c.89311+7C>T (TTN)	XP_024308865.1:n.89311+7C>T
XM_024453098.1:c.89230+7C>T (TTN)	XP_024308866.1:n.89230+7C>T
XM_024453099.1:c.70993+7C>T (TTN)	XP_024308867.1:n.70993+7C>T
XM_024453100.1:c.60847+7C>T (TTN)	XP_024308868.1:n.60847+7C>T