Canonical Allele Identifier: CA1993857

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs767647740
• ExAC: 2:179472316 G / A
• gnomAD v2: 2-179472316-G-A
• gnomAD v4: 2-178607589-G-A
• MyVariant Identifiers: chr2:g.179472316G>A (hg19) ; chr2:g.178607589G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178607589G>A , CM000664.2:g.178607589G>A	GRCh38
NC_000002.11:g.179472316G>A , CM000664.1:g.179472316G>A	GRCh37
NC_000002.10:g.179180561G>A	NCBI36
NG_011618.3:g.228214C>T , LRG_391:g.228214C>T
NG_051363.1:g.89763G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.45395C>T (TTN)	ENSP00000343764.6:p.Pro15132Leu
ENST00000342175.11:c.26480C>T (TTN)	ENSP00000340554.6:p.Pro8827Leu
ENST00000359218.10:c.26279C>T (TTN)	ENSP00000352154.5:p.Pro8760Leu
ENST00000342175.10:c.26480C>T (TTN)	ENSP00000340554.6:p.Pro8827Leu
ENST00000342992.10:c.45395C>T (TTN)	ENSP00000343764.6:p.Pro15132Leu
ENST00000359218.9:c.26279C>T (TTN)	ENSP00000352154.5:p.Pro8760Leu
ENST00000460472.6:c.25904C>T (TTN)	ENSP00000434586.1:p.Pro8635Leu
ENST00000589042.5:c.53099C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro17700Leu
ENST00000591111.5:c.48176C>T (TTN)	ENSP00000465570.1:p.Pro16059Leu
ENST00000615779.4:c.48176C>T (TTN)	ENSP00000483597.1:p.Pro16059Leu
NM_001256850.1:c.48176C>T (TTN)	NP_001243779.1:p.Pro16059Leu
NM_001267550.2:c.53099C>T (TTN) MANE Select	NP_001254479.2:p.Pro17700Leu
NM_003319.4:c.25904C>T (TTN)	NP_003310.4:p.Pro8635Leu
NM_133378.4:c.45395C>T (TTN)	NP_596869.4:p.Pro15132Leu
NM_133432.3:c.26279C>T (TTN)	NP_597676.3:p.Pro8760Leu
NM_133437.4:c.26480C>T (TTN)	NP_597681.4:p.Pro8827Leu
NR_038271.1:n.683-578G>A (TTN-AS1)
XM_011511729.1:c.52196C>T (TTN)	XP_011510031.1:p.Pro17399Leu
XM_011511730.1:c.26090C>T (TTN)	XP_011510032.1:p.Pro8697Leu
XM_011511731.1:c.25949C>T (TTN)	XP_011510033.1:p.Pro8650Leu
XM_017004819.1:c.51992C>T (TTN)	XP_016860308.1:p.Pro17331Leu
XM_017004820.1:c.47390C>T (TTN)	XP_016860309.1:p.Pro15797Leu
XM_017004821.1:c.47387C>T (TTN)	XP_016860310.1:p.Pro15796Leu
XM_017004822.1:c.44429C>T (TTN)	XP_016860311.1:p.Pro14810Leu
XM_017004823.1:c.26045C>T (TTN)	XP_016860312.1:p.Pro8682Leu
XM_024453094.1:c.47540C>T (TTN)	XP_024308862.1:p.Pro15847Leu
XM_024453095.1:c.47537C>T (TTN)	XP_024308863.1:p.Pro15846Leu
XM_024453096.1:c.46970C>T (TTN)	XP_024308864.1:p.Pro15657Leu
XM_024453097.1:c.44312C>T (TTN)	XP_024308865.1:p.Pro14771Leu
XM_024453098.1:c.44231C>T (TTN)	XP_024308866.1:p.Pro14744Leu
XM_024453099.1:c.25994C>T (TTN)	XP_024308867.1:p.Pro8665Leu
XM_024453100.1:c.15848C>T (TTN)	XP_024308868.1:p.Pro5283Leu