Canonical Allele Identifier: CA349470160

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411347A>G (hg19) ; chr2:g.178546620A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546620A>G , CM000664.2:g.178546620A>G	GRCh38
NC_000002.11:g.179411347A>G , CM000664.1:g.179411347A>G	GRCh37
NC_000002.10:g.179119593A>G	NCBI36
NG_011618.3:g.289183T>C , LRG_391:g.289183T>C
NG_051363.1:g.28794A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87104T>C (TTN)	ENSP00000343764.6:p.Val29035Ala
ENST00000342175.11:c.68189T>C (TTN)	ENSP00000340554.6:p.Val22730Ala
ENST00000359218.10:c.67988T>C (TTN)	ENSP00000352154.5:p.Val22663Ala
ENST00000342175.10:c.68189T>C (TTN)	ENSP00000340554.6:p.Val22730Ala
ENST00000342992.10:c.87104T>C (TTN)	ENSP00000343764.6:p.Val29035Ala
ENST00000359218.9:c.67988T>C (TTN)	ENSP00000352154.5:p.Val22663Ala
ENST00000460472.6:c.67613T>C (TTN)	ENSP00000434586.1:p.Val22538Ala
ENST00000589042.5:c.94808T>C (TTN) MANE Select	ENSP00000467141.1:p.Val31603Ala
ENST00000591111.5:c.89885T>C (TTN)	ENSP00000465570.1:p.Val29962Ala
ENST00000615779.4:c.89885T>C (TTN)	ENSP00000483597.1:p.Val29962Ala
NM_001256850.1:c.89885T>C (TTN)	NP_001243779.1:p.Val29962Ala
NM_001267550.2:c.94808T>C (TTN) MANE Select	NP_001254479.2:p.Val31603Ala
NM_003319.4:c.67613T>C (TTN)	NP_003310.4:p.Val22538Ala
NM_133378.4:c.87104T>C (TTN)	NP_596869.4:p.Val29035Ala
NM_133432.3:c.67988T>C (TTN)	NP_597676.3:p.Val22663Ala
NM_133437.4:c.68189T>C (TTN)	NP_597681.4:p.Val22730Ala
NR_038271.1:n.446+22984A>G (TTN-AS1)
NR_038272.1:n.2043+4259A>G (TTN-AS1)
XM_011511729.1:c.93905T>C (TTN)	XP_011510031.1:p.Val31302Ala
XM_011511730.1:c.67799T>C (TTN)	XP_011510032.1:p.Val22600Ala
XM_011511731.1:c.67658T>C (TTN)	XP_011510033.1:p.Val22553Ala
XM_017004819.1:c.93701T>C (TTN)	XP_016860308.1:p.Val31234Ala
XM_017004820.1:c.89099T>C (TTN)	XP_016860309.1:p.Val29700Ala
XM_017004821.1:c.89096T>C (TTN)	XP_016860310.1:p.Val29699Ala
XM_017004822.1:c.86138T>C (TTN)	XP_016860311.1:p.Val28713Ala
XM_017004823.1:c.67754T>C (TTN)	XP_016860312.1:p.Val22585Ala
XM_024453094.1:c.89249T>C (TTN)	XP_024308862.1:p.Val29750Ala
XM_024453095.1:c.89246T>C (TTN)	XP_024308863.1:p.Val29749Ala
XM_024453096.1:c.88679T>C (TTN)	XP_024308864.1:p.Val29560Ala
XM_024453097.1:c.86021T>C (TTN)	XP_024308865.1:p.Val28674Ala
XM_024453098.1:c.85940T>C (TTN)	XP_024308866.1:p.Val28647Ala
XM_024453099.1:c.67703T>C (TTN)	XP_024308867.1:p.Val22568Ala
XM_024453100.1:c.57557T>C (TTN)	XP_024308868.1:p.Val19186Ala