Canonical Allele Identifier: CA349465219

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179454144C>T (hg19) ; chr2:g.178589417C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178589417C>T , CM000664.2:g.178589417C>T	GRCh38
NC_000002.11:g.179454144C>T , CM000664.1:g.179454144C>T	GRCh37
NC_000002.10:g.179162390C>T	NCBI36
NG_011618.3:g.246386G>A , LRG_391:g.246386G>A
NG_051363.1:g.71591C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.54604G>A (TTN)	ENSP00000343764.6:p.Val18202Ile
ENST00000342175.11:c.35689G>A (TTN)	ENSP00000340554.6:p.Val11897Ile
ENST00000359218.10:c.35488G>A (TTN)	ENSP00000352154.5:p.Val11830Ile
ENST00000342175.10:c.35689G>A (TTN)	ENSP00000340554.6:p.Val11897Ile
ENST00000342992.10:c.54604G>A (TTN)	ENSP00000343764.6:p.Val18202Ile
ENST00000359218.9:c.35488G>A (TTN)	ENSP00000352154.5:p.Val11830Ile
ENST00000460472.6:c.35113G>A (TTN)	ENSP00000434586.1:p.Val11705Ile
ENST00000589042.5:c.62308G>A (TTN) MANE Select	ENSP00000467141.1:p.Val20770Ile
ENST00000591111.5:c.57385G>A (TTN)	ENSP00000465570.1:p.Val19129Ile
ENST00000615779.4:c.57385G>A (TTN)	ENSP00000483597.1:p.Val19129Ile
NM_001256850.1:c.57385G>A (TTN)	NP_001243779.1:p.Val19129Ile
NM_001267550.2:c.62308G>A (TTN) MANE Select	NP_001254479.2:p.Val20770Ile
NM_003319.4:c.35113G>A (TTN)	NP_003310.4:p.Val11705Ile
NM_133378.4:c.54604G>A (TTN)	NP_596869.4:p.Val18202Ile
NM_133432.3:c.35488G>A (TTN)	NP_597676.3:p.Val11830Ile
NM_133437.4:c.35689G>A (TTN)	NP_597681.4:p.Val11897Ile
NR_038271.1:n.597-8179C>T (TTN-AS1)
NR_038272.1:n.3189-1722C>T (TTN-AS1)
XM_011511729.1:c.61405G>A (TTN)	XP_011510031.1:p.Val20469Ile
XM_011511730.1:c.35299G>A (TTN)	XP_011510032.1:p.Val11767Ile
XM_011511731.1:c.35158G>A (TTN)	XP_011510033.1:p.Val11720Ile
XM_017004819.1:c.61201G>A (TTN)	XP_016860308.1:p.Val20401Ile
XM_017004820.1:c.56599G>A (TTN)	XP_016860309.1:p.Val18867Ile
XM_017004821.1:c.56596G>A (TTN)	XP_016860310.1:p.Val18866Ile
XM_017004822.1:c.53638G>A (TTN)	XP_016860311.1:p.Val17880Ile
XM_017004823.1:c.35254G>A (TTN)	XP_016860312.1:p.Val11752Ile
XM_024453094.1:c.56749G>A (TTN)	XP_024308862.1:p.Val18917Ile
XM_024453095.1:c.56746G>A (TTN)	XP_024308863.1:p.Val18916Ile
XM_024453096.1:c.56179G>A (TTN)	XP_024308864.1:p.Val18727Ile
XM_024453097.1:c.53521G>A (TTN)	XP_024308865.1:p.Val17841Ile
XM_024453098.1:c.53440G>A (TTN)	XP_024308866.1:p.Val17814Ile
XM_024453099.1:c.35203G>A (TTN)	XP_024308867.1:p.Val11735Ile
XM_024453100.1:c.25057G>A (TTN)	XP_024308868.1:p.Val8353Ile