Canonical Allele Identifier: CA349544850

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179424559T>A (hg19) ; chr2:g.178559832T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559832T>A , CM000664.2:g.178559832T>A	GRCh38
NC_000002.11:g.179424559T>A , CM000664.1:g.179424559T>A	GRCh37
NC_000002.10:g.179132805T>A	NCBI36
NG_011618.3:g.275971A>T , LRG_391:g.275971A>T
NG_051363.1:g.42006T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78596A>T (TTN)	ENSP00000343764.6:p.Lys26199Met
ENST00000342175.11:c.59681A>T (TTN)	ENSP00000340554.6:p.Lys19894Met
ENST00000359218.10:c.59480A>T (TTN)	ENSP00000352154.5:p.Lys19827Met
ENST00000342175.10:c.59681A>T (TTN)	ENSP00000340554.6:p.Lys19894Met
ENST00000342992.10:c.78596A>T (TTN)	ENSP00000343764.6:p.Lys26199Met
ENST00000359218.9:c.59480A>T (TTN)	ENSP00000352154.5:p.Lys19827Met
ENST00000460472.6:c.59105A>T (TTN)	ENSP00000434586.1:p.Lys19702Met
ENST00000589042.5:c.86300A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys28767Met
ENST00000591111.5:c.81377A>T (TTN)	ENSP00000465570.1:p.Lys27126Met
ENST00000615779.4:c.81377A>T (TTN)	ENSP00000483597.1:p.Lys27126Met
NM_001256850.1:c.81377A>T (TTN)	NP_001243779.1:p.Lys27126Met
NM_001267550.2:c.86300A>T (TTN) MANE Select	NP_001254479.2:p.Lys28767Met
NM_003319.4:c.59105A>T (TTN)	NP_003310.4:p.Lys19702Met
NM_133378.4:c.78596A>T (TTN)	NP_596869.4:p.Lys26199Met
NM_133432.3:c.59480A>T (TTN)	NP_597676.3:p.Lys19827Met
NM_133437.4:c.59681A>T (TTN)	NP_597681.4:p.Lys19894Met
NR_038271.1:n.447-11468T>A (TTN-AS1)
NR_038272.1:n.2043+17471T>A (TTN-AS1)
XM_011511729.1:c.85397A>T (TTN)	XP_011510031.1:p.Lys28466Met
XM_011511730.1:c.59291A>T (TTN)	XP_011510032.1:p.Lys19764Met
XM_011511731.1:c.59150A>T (TTN)	XP_011510033.1:p.Lys19717Met
XM_017004819.1:c.85193A>T (TTN)	XP_016860308.1:p.Lys28398Met
XM_017004820.1:c.80591A>T (TTN)	XP_016860309.1:p.Lys26864Met
XM_017004821.1:c.80588A>T (TTN)	XP_016860310.1:p.Lys26863Met
XM_017004822.1:c.77630A>T (TTN)	XP_016860311.1:p.Lys25877Met
XM_017004823.1:c.59246A>T (TTN)	XP_016860312.1:p.Lys19749Met
XM_024453094.1:c.80741A>T (TTN)	XP_024308862.1:p.Lys26914Met
XM_024453095.1:c.80738A>T (TTN)	XP_024308863.1:p.Lys26913Met
XM_024453096.1:c.80171A>T (TTN)	XP_024308864.1:p.Lys26724Met
XM_024453097.1:c.77513A>T (TTN)	XP_024308865.1:p.Lys25838Met
XM_024453098.1:c.77432A>T (TTN)	XP_024308866.1:p.Lys25811Met
XM_024453099.1:c.59195A>T (TTN)	XP_024308867.1:p.Lys19732Met
XM_024453100.1:c.49049A>T (TTN)	XP_024308868.1:p.Lys16350Met