Canonical Allele Identifier: CA349604989

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM6155997 ; COSM6155998 ; COSM6155999 ; COSM6156000
• MyVariant Identifiers: chr2:g.179478655C>A (hg19) ; chr2:g.178613928C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178613928C>A , CM000664.2:g.178613928C>A	GRCh38
NC_000002.11:g.179478655C>A , CM000664.1:g.179478655C>A	GRCh37
NC_000002.10:g.179186900C>A	NCBI36
NG_011618.3:g.221875G>T , LRG_391:g.221875G>T
NG_051363.1:g.96102C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.41651G>T (TTN)	ENSP00000343764.6:p.Gly13884Val
ENST00000342175.11:c.22736G>T (TTN)	ENSP00000340554.6:p.Gly7579Val
ENST00000359218.10:c.22535G>T (TTN)	ENSP00000352154.5:p.Gly7512Val
ENST00000342175.10:c.22736G>T (TTN)	ENSP00000340554.6:p.Gly7579Val
ENST00000342992.10:c.41651G>T (TTN)	ENSP00000343764.6:p.Gly13884Val
ENST00000359218.9:c.22535G>T (TTN)	ENSP00000352154.5:p.Gly7512Val
ENST00000460472.6:c.22160G>T (TTN)	ENSP00000434586.1:p.Gly7387Val
ENST00000589042.5:c.49355G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly16452Val
ENST00000591111.5:c.44432G>T (TTN)	ENSP00000465570.1:p.Gly14811Val
ENST00000615779.4:c.44432G>T (TTN)	ENSP00000483597.1:p.Gly14811Val
NM_001256850.1:c.44432G>T (TTN)	NP_001243779.1:p.Gly14811Val
NM_001267550.2:c.49355G>T (TTN) MANE Select	NP_001254479.2:p.Gly16452Val
NM_003319.4:c.22160G>T (TTN)	NP_003310.4:p.Gly7387Val
NM_133378.4:c.41651G>T (TTN)	NP_596869.4:p.Gly13884Val
NM_133432.3:c.22535G>T (TTN)	NP_597676.3:p.Gly7512Val
NM_133437.4:c.22736G>T (TTN)	NP_597681.4:p.Gly7579Val
NR_038271.1:n.783-107C>A (TTN-AS1)
XM_011511729.1:c.48452G>T (TTN)	XP_011510031.1:p.Gly16151Val
XM_011511730.1:c.22346G>T (TTN)	XP_011510032.1:p.Gly7449Val
XM_011511731.1:c.22205G>T (TTN)	XP_011510033.1:p.Gly7402Val
XM_017004819.1:c.48248G>T (TTN)	XP_016860308.1:p.Gly16083Val
XM_017004820.1:c.43646G>T (TTN)	XP_016860309.1:p.Gly14549Val
XM_017004821.1:c.43643G>T (TTN)	XP_016860310.1:p.Gly14548Val
XM_017004822.1:c.40685G>T (TTN)	XP_016860311.1:p.Gly13562Val
XM_017004823.1:c.22301G>T (TTN)	XP_016860312.1:p.Gly7434Val
XM_024453094.1:c.43796G>T (TTN)	XP_024308862.1:p.Gly14599Val
XM_024453095.1:c.43793G>T (TTN)	XP_024308863.1:p.Gly14598Val
XM_024453096.1:c.43226G>T (TTN)	XP_024308864.1:p.Gly14409Val
XM_024453097.1:c.40568G>T (TTN)	XP_024308865.1:p.Gly13523Val
XM_024453098.1:c.40487G>T (TTN)	XP_024308866.1:p.Gly13496Val
XM_024453099.1:c.22250G>T (TTN)	XP_024308867.1:p.Gly7417Val
XM_024453100.1:c.12104G>T (TTN)	XP_024308868.1:p.Gly4035Val