Canonical Allele Identifier: CA349568595

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM718116 ; COSM718117 ; COSM718118 ; COSM1148640
• MyVariant Identifiers: chr2:g.179472360C>A (hg19) ; chr2:g.178607633C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178607633C>A , CM000664.2:g.178607633C>A	GRCh38
NC_000002.11:g.179472360C>A , CM000664.1:g.179472360C>A	GRCh37
NC_000002.10:g.179180605C>A	NCBI36
NG_011618.3:g.228170G>T , LRG_391:g.228170G>T
NG_051363.1:g.89807C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.45351G>T (TTN)	ENSP00000343764.6:p.Met15117Ile
ENST00000342175.11:c.26436G>T (TTN)	ENSP00000340554.6:p.Met8812Ile
ENST00000359218.10:c.26235G>T (TTN)	ENSP00000352154.5:p.Met8745Ile
ENST00000342175.10:c.26436G>T (TTN)	ENSP00000340554.6:p.Met8812Ile
ENST00000342992.10:c.45351G>T (TTN)	ENSP00000343764.6:p.Met15117Ile
ENST00000359218.9:c.26235G>T (TTN)	ENSP00000352154.5:p.Met8745Ile
ENST00000460472.6:c.25860G>T (TTN)	ENSP00000434586.1:p.Met8620Ile
ENST00000589042.5:c.53055G>T (TTN) MANE Select	ENSP00000467141.1:p.Met17685Ile
ENST00000591111.5:c.48132G>T (TTN)	ENSP00000465570.1:p.Met16044Ile
ENST00000615779.4:c.48132G>T (TTN)	ENSP00000483597.1:p.Met16044Ile
NM_001256850.1:c.48132G>T (TTN)	NP_001243779.1:p.Met16044Ile
NM_001267550.2:c.53055G>T (TTN) MANE Select	NP_001254479.2:p.Met17685Ile
NM_003319.4:c.25860G>T (TTN)	NP_003310.4:p.Met8620Ile
NM_133378.4:c.45351G>T (TTN)	NP_596869.4:p.Met15117Ile
NM_133432.3:c.26235G>T (TTN)	NP_597676.3:p.Met8745Ile
NM_133437.4:c.26436G>T (TTN)	NP_597681.4:p.Met8812Ile
NR_038271.1:n.683-534C>A (TTN-AS1)
XM_011511729.1:c.52152G>T (TTN)	XP_011510031.1:p.Met17384Ile
XM_011511730.1:c.26046G>T (TTN)	XP_011510032.1:p.Met8682Ile
XM_011511731.1:c.25905G>T (TTN)	XP_011510033.1:p.Met8635Ile
XM_017004819.1:c.51948G>T (TTN)	XP_016860308.1:p.Met17316Ile
XM_017004820.1:c.47346G>T (TTN)	XP_016860309.1:p.Met15782Ile
XM_017004821.1:c.47343G>T (TTN)	XP_016860310.1:p.Met15781Ile
XM_017004822.1:c.44385G>T (TTN)	XP_016860311.1:p.Met14795Ile
XM_017004823.1:c.26001G>T (TTN)	XP_016860312.1:p.Met8667Ile
XM_024453094.1:c.47496G>T (TTN)	XP_024308862.1:p.Met15832Ile
XM_024453095.1:c.47493G>T (TTN)	XP_024308863.1:p.Met15831Ile
XM_024453096.1:c.46926G>T (TTN)	XP_024308864.1:p.Met15642Ile
XM_024453097.1:c.44268G>T (TTN)	XP_024308865.1:p.Met14756Ile
XM_024453098.1:c.44187G>T (TTN)	XP_024308866.1:p.Met14729Ile
XM_024453099.1:c.25950G>T (TTN)	XP_024308867.1:p.Met8650Ile
XM_024453100.1:c.15804G>T (TTN)	XP_024308868.1:p.Met5268Ile