Canonical Allele Identifier: CA349406248

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM5985040 ; COSM5985041 ; COSM5985042 ; COSM5985043
• MyVariant Identifiers: chr2:g.179395042C>T (hg19) ; chr2:g.178530315C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530315C>T , CM000664.2:g.178530315C>T	GRCh38
NC_000002.11:g.179395042C>T , CM000664.1:g.179395042C>T	GRCh37
NC_000002.10:g.179103288C>T	NCBI36
NG_011618.3:g.305488G>A , LRG_391:g.305488G>A
NG_051363.1:g.12489C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98596G>A (TTN)	ENSP00000343764.6:p.Asp32866Asn
ENST00000342175.11:c.79681G>A (TTN)	ENSP00000340554.6:p.Asp26561Asn
ENST00000359218.10:c.79480G>A (TTN)	ENSP00000352154.5:p.Asp26494Asn
ENST00000342175.10:c.79681G>A (TTN)	ENSP00000340554.6:p.Asp26561Asn
ENST00000342992.10:c.98596G>A (TTN)	ENSP00000343764.6:p.Asp32866Asn
ENST00000359218.9:c.79480G>A (TTN)	ENSP00000352154.5:p.Asp26494Asn
ENST00000460472.6:c.79105G>A (TTN)	ENSP00000434586.1:p.Asp26369Asn
ENST00000589042.5:c.106300G>A (TTN) MANE Select	ENSP00000467141.1:p.Asp35434Asn
ENST00000591111.5:c.101377G>A (TTN)	ENSP00000465570.1:p.Asp33793Asn
ENST00000615779.4:c.101377G>A (TTN)	ENSP00000483597.1:p.Asp33793Asn
NM_001256850.1:c.101377G>A (TTN)	NP_001243779.1:p.Asp33793Asn
NM_001267550.2:c.106300G>A (TTN) MANE Select	NP_001254479.2:p.Asp35434Asn
NM_003319.4:c.79105G>A (TTN)	NP_003310.4:p.Asp26369Asn
NM_133378.4:c.98596G>A (TTN)	NP_596869.4:p.Asp32866Asn
NM_133432.3:c.79480G>A (TTN)	NP_597676.3:p.Asp26494Asn
NM_133437.4:c.79681G>A (TTN)	NP_597681.4:p.Asp26561Asn
NR_038271.1:n.446+6679C>T (TTN-AS1)
NR_038272.1:n.220-5417C>T (TTN-AS1)
XM_011511729.1:c.105397G>A (TTN)	XP_011510031.1:p.Asp35133Asn
XM_011511730.1:c.79291G>A (TTN)	XP_011510032.1:p.Asp26431Asn
XM_011511731.1:c.79150G>A (TTN)	XP_011510033.1:p.Asp26384Asn
XM_017004819.1:c.105193G>A (TTN)	XP_016860308.1:p.Asp35065Asn
XM_017004820.1:c.100591G>A (TTN)	XP_016860309.1:p.Asp33531Asn
XM_017004821.1:c.100588G>A (TTN)	XP_016860310.1:p.Asp33530Asn
XM_017004822.1:c.97630G>A (TTN)	XP_016860311.1:p.Asp32544Asn
XM_017004823.1:c.79246G>A (TTN)	XP_016860312.1:p.Asp26416Asn
XM_024453094.1:c.100741G>A (TTN)	XP_024308862.1:p.Asp33581Asn
XM_024453095.1:c.100738G>A (TTN)	XP_024308863.1:p.Asp33580Asn
XM_024453096.1:c.100171G>A (TTN)	XP_024308864.1:p.Asp33391Asn
XM_024453097.1:c.97513G>A (TTN)	XP_024308865.1:p.Asp32505Asn
XM_024453098.1:c.97432G>A (TTN)	XP_024308866.1:p.Asp32478Asn
XM_024453099.1:c.79195G>A (TTN)	XP_024308867.1:p.Asp26399Asn
XM_024453100.1:c.69049G>A (TTN)	XP_024308868.1:p.Asp23017Asn