Canonical Allele Identifier: CA349495969

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179414538C>T (hg19) ; chr2:g.178549811C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549811C>T , CM000664.2:g.178549811C>T	GRCh38
NC_000002.11:g.179414538C>T , CM000664.1:g.179414538C>T	GRCh37
NC_000002.10:g.179122784C>T	NCBI36
NG_011618.3:g.285992G>A , LRG_391:g.285992G>A
NG_051363.1:g.31985C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84207G>A (TTN)	ENSP00000343764.6:p.Met28069Ile
ENST00000342175.11:c.65292G>A (TTN)	ENSP00000340554.6:p.Met21764Ile
ENST00000359218.10:c.65091G>A (TTN)	ENSP00000352154.5:p.Met21697Ile
ENST00000342175.10:c.65292G>A (TTN)	ENSP00000340554.6:p.Met21764Ile
ENST00000342992.10:c.84207G>A (TTN)	ENSP00000343764.6:p.Met28069Ile
ENST00000359218.9:c.65091G>A (TTN)	ENSP00000352154.5:p.Met21697Ile
ENST00000460472.6:c.64716G>A (TTN)	ENSP00000434586.1:p.Met21572Ile
ENST00000589042.5:c.91911G>A (TTN) MANE Select	ENSP00000467141.1:p.Met30637Ile
ENST00000591111.5:c.86988G>A (TTN)	ENSP00000465570.1:p.Met28996Ile
ENST00000615779.4:c.86988G>A (TTN)	ENSP00000483597.1:p.Met28996Ile
NM_001256850.1:c.86988G>A (TTN)	NP_001243779.1:p.Met28996Ile
NM_001267550.2:c.91911G>A (TTN) MANE Select	NP_001254479.2:p.Met30637Ile
NM_003319.4:c.64716G>A (TTN)	NP_003310.4:p.Met21572Ile
NM_133378.4:c.84207G>A (TTN)	NP_596869.4:p.Met28069Ile
NM_133432.3:c.65091G>A (TTN)	NP_597676.3:p.Met21697Ile
NM_133437.4:c.65292G>A (TTN)	NP_597681.4:p.Met21764Ile
NR_038271.1:n.447-21489C>T (TTN-AS1)
NR_038272.1:n.2043+7450C>T (TTN-AS1)
XM_011511729.1:c.91008G>A (TTN)	XP_011510031.1:p.Met30336Ile
XM_011511730.1:c.64902G>A (TTN)	XP_011510032.1:p.Met21634Ile
XM_011511731.1:c.64761G>A (TTN)	XP_011510033.1:p.Met21587Ile
XM_017004819.1:c.90804G>A (TTN)	XP_016860308.1:p.Met30268Ile
XM_017004820.1:c.86202G>A (TTN)	XP_016860309.1:p.Met28734Ile
XM_017004821.1:c.86199G>A (TTN)	XP_016860310.1:p.Met28733Ile
XM_017004822.1:c.83241G>A (TTN)	XP_016860311.1:p.Met27747Ile
XM_017004823.1:c.64857G>A (TTN)	XP_016860312.1:p.Met21619Ile
XM_024453094.1:c.86352G>A (TTN)	XP_024308862.1:p.Met28784Ile
XM_024453095.1:c.86349G>A (TTN)	XP_024308863.1:p.Met28783Ile
XM_024453096.1:c.85782G>A (TTN)	XP_024308864.1:p.Met28594Ile
XM_024453097.1:c.83124G>A (TTN)	XP_024308865.1:p.Met27708Ile
XM_024453098.1:c.83043G>A (TTN)	XP_024308866.1:p.Met27681Ile
XM_024453099.1:c.64806G>A (TTN)	XP_024308867.1:p.Met21602Ile
XM_024453100.1:c.54660G>A (TTN)	XP_024308868.1:p.Met18220Ile