Canonical Allele Identifier: CA349471623

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411504C>T (hg19) ; chr2:g.178546777C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546777C>T , CM000664.2:g.178546777C>T	GRCh38
NC_000002.11:g.179411504C>T , CM000664.1:g.179411504C>T	GRCh37
NC_000002.10:g.179119750C>T	NCBI36
NG_011618.3:g.289026G>A , LRG_391:g.289026G>A
NG_051363.1:g.28951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86947G>A (TTN)	ENSP00000343764.6:p.Val28983Ile
ENST00000342175.11:c.68032G>A (TTN)	ENSP00000340554.6:p.Val22678Ile
ENST00000359218.10:c.67831G>A (TTN)	ENSP00000352154.5:p.Val22611Ile
ENST00000342175.10:c.68032G>A (TTN)	ENSP00000340554.6:p.Val22678Ile
ENST00000342992.10:c.86947G>A (TTN)	ENSP00000343764.6:p.Val28983Ile
ENST00000359218.9:c.67831G>A (TTN)	ENSP00000352154.5:p.Val22611Ile
ENST00000460472.6:c.67456G>A (TTN)	ENSP00000434586.1:p.Val22486Ile
ENST00000589042.5:c.94651G>A (TTN) MANE Select	ENSP00000467141.1:p.Val31551Ile
ENST00000591111.5:c.89728G>A (TTN)	ENSP00000465570.1:p.Val29910Ile
ENST00000615779.4:c.89728G>A (TTN)	ENSP00000483597.1:p.Val29910Ile
NM_001256850.1:c.89728G>A (TTN)	NP_001243779.1:p.Val29910Ile
NM_001267550.2:c.94651G>A (TTN) MANE Select	NP_001254479.2:p.Val31551Ile
NM_003319.4:c.67456G>A (TTN)	NP_003310.4:p.Val22486Ile
NM_133378.4:c.86947G>A (TTN)	NP_596869.4:p.Val28983Ile
NM_133432.3:c.67831G>A (TTN)	NP_597676.3:p.Val22611Ile
NM_133437.4:c.68032G>A (TTN)	NP_597681.4:p.Val22678Ile
NR_038271.1:n.446+23141C>T (TTN-AS1)
NR_038272.1:n.2043+4416C>T (TTN-AS1)
XM_011511729.1:c.93748G>A (TTN)	XP_011510031.1:p.Val31250Ile
XM_011511730.1:c.67642G>A (TTN)	XP_011510032.1:p.Val22548Ile
XM_011511731.1:c.67501G>A (TTN)	XP_011510033.1:p.Val22501Ile
XM_017004819.1:c.93544G>A (TTN)	XP_016860308.1:p.Val31182Ile
XM_017004820.1:c.88942G>A (TTN)	XP_016860309.1:p.Val29648Ile
XM_017004821.1:c.88939G>A (TTN)	XP_016860310.1:p.Val29647Ile
XM_017004822.1:c.85981G>A (TTN)	XP_016860311.1:p.Val28661Ile
XM_017004823.1:c.67597G>A (TTN)	XP_016860312.1:p.Val22533Ile
XM_024453094.1:c.89092G>A (TTN)	XP_024308862.1:p.Val29698Ile
XM_024453095.1:c.89089G>A (TTN)	XP_024308863.1:p.Val29697Ile
XM_024453096.1:c.88522G>A (TTN)	XP_024308864.1:p.Val29508Ile
XM_024453097.1:c.85864G>A (TTN)	XP_024308865.1:p.Val28622Ile
XM_024453098.1:c.85783G>A (TTN)	XP_024308866.1:p.Val28595Ile
XM_024453099.1:c.67546G>A (TTN)	XP_024308867.1:p.Val22516Ile
XM_024453100.1:c.57400G>A (TTN)	XP_024308868.1:p.Val19134Ile