Canonical Allele Identifier: CA349435979

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179449302A>G (hg19) ; chr2:g.178584575A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584575A>G , CM000664.2:g.178584575A>G	GRCh38
NC_000002.11:g.179449302A>G , CM000664.1:g.179449302A>G	GRCh37
NC_000002.10:g.179157548A>G	NCBI36
NG_011618.3:g.251228T>C , LRG_391:g.251228T>C
NG_051363.1:g.66749A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57272T>C (TTN)	ENSP00000343764.6:p.Val19091Ala
ENST00000342175.11:c.38357T>C (TTN)	ENSP00000340554.6:p.Val12786Ala
ENST00000359218.10:c.38156T>C (TTN)	ENSP00000352154.5:p.Val12719Ala
ENST00000342175.10:c.38357T>C (TTN)	ENSP00000340554.6:p.Val12786Ala
ENST00000342992.10:c.57272T>C (TTN)	ENSP00000343764.6:p.Val19091Ala
ENST00000359218.9:c.38156T>C (TTN)	ENSP00000352154.5:p.Val12719Ala
ENST00000460472.6:c.37781T>C (TTN)	ENSP00000434586.1:p.Val12594Ala
ENST00000589042.5:c.64976T>C (TTN) MANE Select	ENSP00000467141.1:p.Val21659Ala
ENST00000591111.5:c.60053T>C (TTN)	ENSP00000465570.1:p.Val20018Ala
ENST00000615779.4:c.60053T>C (TTN)	ENSP00000483597.1:p.Val20018Ala
NM_001256850.1:c.60053T>C (TTN)	NP_001243779.1:p.Val20018Ala
NM_001267550.2:c.64976T>C (TTN) MANE Select	NP_001254479.2:p.Val21659Ala
NM_003319.4:c.37781T>C (TTN)	NP_003310.4:p.Val12594Ala
NM_133378.4:c.57272T>C (TTN)	NP_596869.4:p.Val19091Ala
NM_133432.3:c.38156T>C (TTN)	NP_597676.3:p.Val12719Ala
NM_133437.4:c.38357T>C (TTN)	NP_597681.4:p.Val12786Ala
NR_038271.1:n.597-13021A>G (TTN-AS1)
NR_038272.1:n.2770A>G (TTN-AS1)
XM_011511729.1:c.64073T>C (TTN)	XP_011510031.1:p.Val21358Ala
XM_011511730.1:c.37967T>C (TTN)	XP_011510032.1:p.Val12656Ala
XM_011511731.1:c.37826T>C (TTN)	XP_011510033.1:p.Val12609Ala
XM_017004819.1:c.63869T>C (TTN)	XP_016860308.1:p.Val21290Ala
XM_017004820.1:c.59267T>C (TTN)	XP_016860309.1:p.Val19756Ala
XM_017004821.1:c.59264T>C (TTN)	XP_016860310.1:p.Val19755Ala
XM_017004822.1:c.56306T>C (TTN)	XP_016860311.1:p.Val18769Ala
XM_017004823.1:c.37922T>C (TTN)	XP_016860312.1:p.Val12641Ala
XM_024453094.1:c.59417T>C (TTN)	XP_024308862.1:p.Val19806Ala
XM_024453095.1:c.59414T>C (TTN)	XP_024308863.1:p.Val19805Ala
XM_024453096.1:c.58847T>C (TTN)	XP_024308864.1:p.Val19616Ala
XM_024453097.1:c.56189T>C (TTN)	XP_024308865.1:p.Val18730Ala
XM_024453098.1:c.56108T>C (TTN)	XP_024308866.1:p.Val18703Ala
XM_024453099.1:c.37871T>C (TTN)	XP_024308867.1:p.Val12624Ala
XM_024453100.1:c.27725T>C (TTN)	XP_024308868.1:p.Val9242Ala