Canonical Allele Identifier: CA343088

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 38438
• ClinVar RCV Id: RCV000031994
• dbSNP Id: rs281864931
• MyVariant Identifiers: chr2:g.179391878T>G (hg19) ; chr2:g.178527151T>G (hg38)
• PubMed: PMID:19911250 ; PMID:20301498

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527151T>G , CM000664.2:g.178527151T>G	GRCh38
NC_000002.11:g.179391878T>G , CM000664.1:g.179391878T>G	GRCh37
NC_000002.10:g.179100124T>G	NCBI36
NG_011618.3:g.308652A>C , LRG_391:g.308652A>C
NG_051363.1:g.9325T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.100133A>C (TTN)	ENSP00000343764.6:p.His33378Pro
ENST00000342175.11:c.81218A>C (TTN)	ENSP00000340554.6:p.His27073Pro
ENST00000359218.10:c.81017A>C (TTN)	ENSP00000352154.5:p.His27006Pro
ENST00000342175.10:c.81218A>C (TTN)	ENSP00000340554.6:p.His27073Pro
ENST00000342992.10:c.100133A>C (TTN)	ENSP00000343764.6:p.His33378Pro
ENST00000359218.9:c.81017A>C (TTN)	ENSP00000352154.5:p.His27006Pro
ENST00000460472.6:c.80642A>C (TTN)	ENSP00000434586.1:p.His26881Pro
ENST00000589042.5:c.107837A>C (TTN) MANE Select	ENSP00000467141.1:p.His35946Pro
ENST00000591111.5:c.102914A>C (TTN)	ENSP00000465570.1:p.His34305Pro
ENST00000615779.4:c.102914A>C (TTN)	ENSP00000483597.1:p.His34305Pro
NM_001256850.1:c.102914A>C (TTN)	NP_001243779.1:p.His34305Pro
NM_001267550.2:c.107837A>C (TTN) MANE Select	NP_001254479.2:p.His35946Pro
NM_003319.4:c.80642A>C (TTN)	NP_003310.4:p.His26881Pro
NM_133378.4:c.100133A>C (TTN)	NP_596869.4:p.His33378Pro
NM_133432.3:c.81017A>C (TTN)	NP_597676.3:p.His27006Pro
NM_133437.4:c.81218A>C (TTN)	NP_597681.4:p.His27073Pro
NR_038271.1:n.446+3515T>G (TTN-AS1)
NR_038272.1:n.219+3515T>G (TTN-AS1)
XM_011511729.1:c.106934A>C (TTN)	XP_011510031.1:p.His35645Pro
XM_011511730.1:c.80828A>C (TTN)	XP_011510032.1:p.His26943Pro
XM_011511731.1:c.80687A>C (TTN)	XP_011510033.1:p.His26896Pro
XM_017004819.1:c.106730A>C (TTN)	XP_016860308.1:p.His35577Pro
XM_017004820.1:c.102128A>C (TTN)	XP_016860309.1:p.His34043Pro
XM_017004821.1:c.102125A>C (TTN)	XP_016860310.1:p.His34042Pro
XM_017004822.1:c.99167A>C (TTN)	XP_016860311.1:p.His33056Pro
XM_017004823.1:c.80783A>C (TTN)	XP_016860312.1:p.His26928Pro
XM_024453094.1:c.102278A>C (TTN)	XP_024308862.1:p.His34093Pro
XM_024453095.1:c.102275A>C (TTN)	XP_024308863.1:p.His34092Pro
XM_024453096.1:c.101708A>C (TTN)	XP_024308864.1:p.His33903Pro
XM_024453097.1:c.99050A>C (TTN)	XP_024308865.1:p.His33017Pro
XM_024453098.1:c.98969A>C (TTN)	XP_024308866.1:p.His32990Pro
XM_024453099.1:c.80732A>C (TTN)	XP_024308867.1:p.His26911Pro
XM_024453100.1:c.70586A>C (TTN)	XP_024308868.1:p.His23529Pro