Canonical Allele Identifier: CA349465217

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.54604G>T (TTN)	ENSP00000343764.6:p.Val18202Leu
ENST00000342175.11:c.35689G>T (TTN)	ENSP00000340554.6:p.Val11897Leu
ENST00000359218.10:c.35488G>T (TTN)	ENSP00000352154.5:p.Val11830Leu
ENST00000342175.10:c.35689G>T (TTN)	ENSP00000340554.6:p.Val11897Leu
ENST00000342992.10:c.54604G>T (TTN)	ENSP00000343764.6:p.Val18202Leu
ENST00000359218.9:c.35488G>T (TTN)	ENSP00000352154.5:p.Val11830Leu
ENST00000460472.6:c.35113G>T (TTN)	ENSP00000434586.1:p.Val11705Leu
ENST00000589042.5:c.62308G>T (TTN) MANE Select	ENSP00000467141.1:p.Val20770Leu
ENST00000591111.5:c.57385G>T (TTN)	ENSP00000465570.1:p.Val19129Leu
ENST00000615779.4:c.57385G>T (TTN)	ENSP00000483597.1:p.Val19129Leu
NM_001256850.1:c.57385G>T (TTN)	NP_001243779.1:p.Val19129Leu
NM_001267550.2:c.62308G>T (TTN) MANE Select	NP_001254479.2:p.Val20770Leu
NM_003319.4:c.35113G>T (TTN)	NP_003310.4:p.Val11705Leu
NM_133378.4:c.54604G>T (TTN)	NP_596869.4:p.Val18202Leu
NM_133432.3:c.35488G>T (TTN)	NP_597676.3:p.Val11830Leu
NM_133437.4:c.35689G>T (TTN)	NP_597681.4:p.Val11897Leu
NR_038271.1:n.597-8179C>A (TTN-AS1)
NR_038272.1:n.3189-1722C>A (TTN-AS1)
XM_011511729.1:c.61405G>T (TTN)	XP_011510031.1:p.Val20469Leu
XM_011511730.1:c.35299G>T (TTN)	XP_011510032.1:p.Val11767Leu
XM_011511731.1:c.35158G>T (TTN)	XP_011510033.1:p.Val11720Leu
XM_017004819.1:c.61201G>T (TTN)	XP_016860308.1:p.Val20401Leu
XM_017004820.1:c.56599G>T (TTN)	XP_016860309.1:p.Val18867Leu
XM_017004821.1:c.56596G>T (TTN)	XP_016860310.1:p.Val18866Leu
XM_017004822.1:c.53638G>T (TTN)	XP_016860311.1:p.Val17880Leu
XM_017004823.1:c.35254G>T (TTN)	XP_016860312.1:p.Val11752Leu
XM_024453094.1:c.56749G>T (TTN)	XP_024308862.1:p.Val18917Leu
XM_024453095.1:c.56746G>T (TTN)	XP_024308863.1:p.Val18916Leu
XM_024453096.1:c.56179G>T (TTN)	XP_024308864.1:p.Val18727Leu
XM_024453097.1:c.53521G>T (TTN)	XP_024308865.1:p.Val17841Leu
XM_024453098.1:c.53440G>T (TTN)	XP_024308866.1:p.Val17814Leu
XM_024453099.1:c.35203G>T (TTN)	XP_024308867.1:p.Val11735Leu
XM_024453100.1:c.25057G>T (TTN)	XP_024308868.1:p.Val8353Leu