Canonical Allele Identifier: CA349411519

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1689391116
• gnomAD v3: 2-178532109-G-T
• gnomAD v4: 2-178532109-G-T
• MyVariant Identifiers: chr2:g.179396836G>T (hg19) ; chr2:g.178532109G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532109G>T , CM000664.2:g.178532109G>T	GRCh38
NC_000002.11:g.179396836G>T , CM000664.1:g.179396836G>T	GRCh37
NC_000002.10:g.179105082G>T	NCBI36
NG_011618.3:g.303694C>A , LRG_391:g.303694C>A
NG_051363.1:g.14283G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.96802C>A (TTN)	ENSP00000343764.6:p.Leu32268Ile
ENST00000342175.11:c.77887C>A (TTN)	ENSP00000340554.6:p.Leu25963Ile
ENST00000359218.10:c.77686C>A (TTN)	ENSP00000352154.5:p.Leu25896Ile
ENST00000342175.10:c.77887C>A (TTN)	ENSP00000340554.6:p.Leu25963Ile
ENST00000342992.10:c.96802C>A (TTN)	ENSP00000343764.6:p.Leu32268Ile
ENST00000359218.9:c.77686C>A (TTN)	ENSP00000352154.5:p.Leu25896Ile
ENST00000460472.6:c.77311C>A (TTN)	ENSP00000434586.1:p.Leu25771Ile
ENST00000589042.5:c.104506C>A (TTN) MANE Select	ENSP00000467141.1:p.Leu34836Ile
ENST00000591111.5:c.99583C>A (TTN)	ENSP00000465570.1:p.Leu33195Ile
ENST00000615779.4:c.99583C>A (TTN)	ENSP00000483597.1:p.Leu33195Ile
NM_001256850.1:c.99583C>A (TTN)	NP_001243779.1:p.Leu33195Ile
NM_001267550.2:c.104506C>A (TTN) MANE Select	NP_001254479.2:p.Leu34836Ile
NM_003319.4:c.77311C>A (TTN)	NP_003310.4:p.Leu25771Ile
NM_133378.4:c.96802C>A (TTN)	NP_596869.4:p.Leu32268Ile
NM_133432.3:c.77686C>A (TTN)	NP_597676.3:p.Leu25896Ile
NM_133437.4:c.77887C>A (TTN)	NP_597681.4:p.Leu25963Ile
NR_038271.1:n.446+8473G>T (TTN-AS1)
NR_038272.1:n.220-3623G>T (TTN-AS1)
XM_011511729.1:c.103603C>A (TTN)	XP_011510031.1:p.Leu34535Ile
XM_011511730.1:c.77497C>A (TTN)	XP_011510032.1:p.Leu25833Ile
XM_011511731.1:c.77356C>A (TTN)	XP_011510033.1:p.Leu25786Ile
XM_017004819.1:c.103399C>A (TTN)	XP_016860308.1:p.Leu34467Ile
XM_017004820.1:c.98797C>A (TTN)	XP_016860309.1:p.Leu32933Ile
XM_017004821.1:c.98794C>A (TTN)	XP_016860310.1:p.Leu32932Ile
XM_017004822.1:c.95836C>A (TTN)	XP_016860311.1:p.Leu31946Ile
XM_017004823.1:c.77452C>A (TTN)	XP_016860312.1:p.Leu25818Ile
XM_024453094.1:c.98947C>A (TTN)	XP_024308862.1:p.Leu32983Ile
XM_024453095.1:c.98944C>A (TTN)	XP_024308863.1:p.Leu32982Ile
XM_024453096.1:c.98377C>A (TTN)	XP_024308864.1:p.Leu32793Ile
XM_024453097.1:c.95719C>A (TTN)	XP_024308865.1:p.Leu31907Ile
XM_024453098.1:c.95638C>A (TTN)	XP_024308866.1:p.Leu31880Ile
XM_024453099.1:c.77401C>A (TTN)	XP_024308867.1:p.Leu25801Ile
XM_024453100.1:c.67255C>A (TTN)	XP_024308868.1:p.Leu22419Ile