Canonical Allele Identifier: CA349581122

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM5676139 ; COSM5676140 ; COSM5676141 ; COSM5676142
• MyVariant Identifiers: chr2:g.179429242A>T (hg19) ; chr2:g.178564515A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564515A>T , CM000664.2:g.178564515A>T	GRCh38
NC_000002.11:g.179429242A>T , CM000664.1:g.179429242A>T	GRCh37
NC_000002.10:g.179137488A>T	NCBI36
NG_011618.3:g.271288T>A , LRG_391:g.271288T>A
NG_051363.1:g.46689A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73913T>A (TTN)	ENSP00000343764.6:p.Ile24638Asn
ENST00000342175.11:c.54998T>A (TTN)	ENSP00000340554.6:p.Ile18333Asn
ENST00000359218.10:c.54797T>A (TTN)	ENSP00000352154.5:p.Ile18266Asn
ENST00000342175.10:c.54998T>A (TTN)	ENSP00000340554.6:p.Ile18333Asn
ENST00000342992.10:c.73913T>A (TTN)	ENSP00000343764.6:p.Ile24638Asn
ENST00000359218.9:c.54797T>A (TTN)	ENSP00000352154.5:p.Ile18266Asn
ENST00000460472.6:c.54422T>A (TTN)	ENSP00000434586.1:p.Ile18141Asn
ENST00000589042.5:c.81617T>A (TTN) MANE Select	ENSP00000467141.1:p.Ile27206Asn
ENST00000591111.5:c.76694T>A (TTN)	ENSP00000465570.1:p.Ile25565Asn
ENST00000615779.4:c.76694T>A (TTN)	ENSP00000483597.1:p.Ile25565Asn
NM_001256850.1:c.76694T>A (TTN)	NP_001243779.1:p.Ile25565Asn
NM_001267550.2:c.81617T>A (TTN) MANE Select	NP_001254479.2:p.Ile27206Asn
NM_003319.4:c.54422T>A (TTN)	NP_003310.4:p.Ile18141Asn
NM_133378.4:c.73913T>A (TTN)	NP_596869.4:p.Ile24638Asn
NM_133432.3:c.54797T>A (TTN)	NP_597676.3:p.Ile18266Asn
NM_133437.4:c.54998T>A (TTN)	NP_597681.4:p.Ile18333Asn
NR_038271.1:n.447-6785A>T (TTN-AS1)
NR_038272.1:n.2044-18057A>T (TTN-AS1)
XM_011511729.1:c.80714T>A (TTN)	XP_011510031.1:p.Ile26905Asn
XM_011511730.1:c.54608T>A (TTN)	XP_011510032.1:p.Ile18203Asn
XM_011511731.1:c.54467T>A (TTN)	XP_011510033.1:p.Ile18156Asn
XM_017004819.1:c.80510T>A (TTN)	XP_016860308.1:p.Ile26837Asn
XM_017004820.1:c.75908T>A (TTN)	XP_016860309.1:p.Ile25303Asn
XM_017004821.1:c.75905T>A (TTN)	XP_016860310.1:p.Ile25302Asn
XM_017004822.1:c.72947T>A (TTN)	XP_016860311.1:p.Ile24316Asn
XM_017004823.1:c.54563T>A (TTN)	XP_016860312.1:p.Ile18188Asn
XM_024453094.1:c.76058T>A (TTN)	XP_024308862.1:p.Ile25353Asn
XM_024453095.1:c.76055T>A (TTN)	XP_024308863.1:p.Ile25352Asn
XM_024453096.1:c.75488T>A (TTN)	XP_024308864.1:p.Ile25163Asn
XM_024453097.1:c.72830T>A (TTN)	XP_024308865.1:p.Ile24277Asn
XM_024453098.1:c.72749T>A (TTN)	XP_024308866.1:p.Ile24250Asn
XM_024453099.1:c.54512T>A (TTN)	XP_024308867.1:p.Ile18171Asn
XM_024453100.1:c.44366T>A (TTN)	XP_024308868.1:p.Ile14789Asn