Canonical Allele Identifier: CA349446038

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM6088936 ; COSM6088937 ; COSM6088938 ; COSM6088939
• MyVariant Identifiers: chr2:g.179408023G>T (hg19) ; chr2:g.178543296G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543296G>T , CM000664.2:g.178543296G>T	GRCh38
NC_000002.11:g.179408023G>T , CM000664.1:g.179408023G>T	GRCh37
NC_000002.10:g.179116269G>T	NCBI36
NG_011618.3:g.292507C>A , LRG_391:g.292507C>A
NG_051363.1:g.25470G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88973C>A (TTN)	ENSP00000343764.6:p.Pro29658Gln
ENST00000342175.11:c.70058C>A (TTN)	ENSP00000340554.6:p.Pro23353Gln
ENST00000359218.10:c.69857C>A (TTN)	ENSP00000352154.5:p.Pro23286Gln
ENST00000342175.10:c.70058C>A (TTN)	ENSP00000340554.6:p.Pro23353Gln
ENST00000342992.10:c.88973C>A (TTN)	ENSP00000343764.6:p.Pro29658Gln
ENST00000359218.9:c.69857C>A (TTN)	ENSP00000352154.5:p.Pro23286Gln
ENST00000460472.6:c.69482C>A (TTN)	ENSP00000434586.1:p.Pro23161Gln
ENST00000589042.5:c.96677C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro32226Gln
ENST00000591111.5:c.91754C>A (TTN)	ENSP00000465570.1:p.Pro30585Gln
ENST00000615779.4:c.91754C>A (TTN)	ENSP00000483597.1:p.Pro30585Gln
NM_001256850.1:c.91754C>A (TTN)	NP_001243779.1:p.Pro30585Gln
NM_001267550.2:c.96677C>A (TTN) MANE Select	NP_001254479.2:p.Pro32226Gln
NM_003319.4:c.69482C>A (TTN)	NP_003310.4:p.Pro23161Gln
NM_133378.4:c.88973C>A (TTN)	NP_596869.4:p.Pro29658Gln
NM_133432.3:c.69857C>A (TTN)	NP_597676.3:p.Pro23286Gln
NM_133437.4:c.70058C>A (TTN)	NP_597681.4:p.Pro23353Gln
NR_038271.1:n.446+19660G>T (TTN-AS1)
NR_038272.1:n.2043+935G>T (TTN-AS1)
XM_011511729.1:c.95774C>A (TTN)	XP_011510031.1:p.Pro31925Gln
XM_011511730.1:c.69668C>A (TTN)	XP_011510032.1:p.Pro23223Gln
XM_011511731.1:c.69527C>A (TTN)	XP_011510033.1:p.Pro23176Gln
XM_017004819.1:c.95570C>A (TTN)	XP_016860308.1:p.Pro31857Gln
XM_017004820.1:c.90968C>A (TTN)	XP_016860309.1:p.Pro30323Gln
XM_017004821.1:c.90965C>A (TTN)	XP_016860310.1:p.Pro30322Gln
XM_017004822.1:c.88007C>A (TTN)	XP_016860311.1:p.Pro29336Gln
XM_017004823.1:c.69623C>A (TTN)	XP_016860312.1:p.Pro23208Gln
XM_024453094.1:c.91118C>A (TTN)	XP_024308862.1:p.Pro30373Gln
XM_024453095.1:c.91115C>A (TTN)	XP_024308863.1:p.Pro30372Gln
XM_024453096.1:c.90548C>A (TTN)	XP_024308864.1:p.Pro30183Gln
XM_024453097.1:c.87890C>A (TTN)	XP_024308865.1:p.Pro29297Gln
XM_024453098.1:c.87809C>A (TTN)	XP_024308866.1:p.Pro29270Gln
XM_024453099.1:c.69572C>A (TTN)	XP_024308867.1:p.Pro23191Gln
XM_024453100.1:c.59426C>A (TTN)	XP_024308868.1:p.Pro19809Gln