Canonical Allele Identifier: CA16610281

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 405103
• ClinVar RCV Id: RCV000467853
• dbSNP Id: rs1060500560
• gnomAD v2: 2-179395317-T-C
• gnomAD v3: 2-178530590-T-C
• gnomAD v4: 2-178530590-T-C
• MyVariant Identifiers: chr2:g.179395317T>C (hg19) ; chr2:g.179395317_179395318delinsCA (hg19) ; chr2:g.178530590T>C (hg38) ; chr2:g.178530590_178530591delinsCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530590T>C , CM000664.2:g.178530590T>C	GRCh38
NC_000002.11:g.179395317T>C , CM000664.1:g.179395317T>C	GRCh37
NC_000002.10:g.179103563T>C	NCBI36
NG_011618.3:g.305213A>G , LRG_391:g.305213A>G
NG_051363.1:g.12764T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98321A>G (TTN)	ENSP00000343764.6:p.Tyr32774Cys
ENST00000342175.11:c.79406A>G (TTN)	ENSP00000340554.6:p.Tyr26469Cys
ENST00000359218.10:c.79205A>G (TTN)	ENSP00000352154.5:p.Tyr26402Cys
ENST00000342175.10:c.79406A>G (TTN)	ENSP00000340554.6:p.Tyr26469Cys
ENST00000342992.10:c.98321A>G (TTN)	ENSP00000343764.6:p.Tyr32774Cys
ENST00000359218.9:c.79205A>G (TTN)	ENSP00000352154.5:p.Tyr26402Cys
ENST00000460472.6:c.78830A>G (TTN)	ENSP00000434586.1:p.Tyr26277Cys
ENST00000589042.5:c.106025A>G (TTN) MANE Select	ENSP00000467141.1:p.Tyr35342Cys
ENST00000591111.5:c.101102A>G (TTN)	ENSP00000465570.1:p.Tyr33701Cys
ENST00000615779.4:c.101102A>G (TTN)	ENSP00000483597.1:p.Tyr33701Cys
NM_001256850.1:c.101102A>G (TTN)	NP_001243779.1:p.Tyr33701Cys
NM_001267550.2:c.106025A>G (TTN) MANE Select	NP_001254479.2:p.Tyr35342Cys
NM_003319.4:c.78830A>G (TTN)	NP_003310.4:p.Tyr26277Cys
NM_133378.4:c.98321A>G (TTN)	NP_596869.4:p.Tyr32774Cys
NM_133432.3:c.79205A>G (TTN)	NP_597676.3:p.Tyr26402Cys
NM_133437.4:c.79406A>G (TTN)	NP_597681.4:p.Tyr26469Cys
NR_038271.1:n.446+6954T>C (TTN-AS1)
NR_038272.1:n.220-5142T>C (TTN-AS1)
XM_011511729.1:c.105122A>G (TTN)	XP_011510031.1:p.Tyr35041Cys
XM_011511730.1:c.79016A>G (TTN)	XP_011510032.1:p.Tyr26339Cys
XM_011511731.1:c.78875A>G (TTN)	XP_011510033.1:p.Tyr26292Cys
XM_017004819.1:c.104918A>G (TTN)	XP_016860308.1:p.Tyr34973Cys
XM_017004820.1:c.100316A>G (TTN)	XP_016860309.1:p.Tyr33439Cys
XM_017004821.1:c.100313A>G (TTN)	XP_016860310.1:p.Tyr33438Cys
XM_017004822.1:c.97355A>G (TTN)	XP_016860311.1:p.Tyr32452Cys
XM_017004823.1:c.78971A>G (TTN)	XP_016860312.1:p.Tyr26324Cys
XM_024453094.1:c.100466A>G (TTN)	XP_024308862.1:p.Tyr33489Cys
XM_024453095.1:c.100463A>G (TTN)	XP_024308863.1:p.Tyr33488Cys
XM_024453096.1:c.99896A>G (TTN)	XP_024308864.1:p.Tyr33299Cys
XM_024453097.1:c.97238A>G (TTN)	XP_024308865.1:p.Tyr32413Cys
XM_024453098.1:c.97157A>G (TTN)	XP_024308866.1:p.Tyr32386Cys
XM_024453099.1:c.78920A>G (TTN)	XP_024308867.1:p.Tyr26307Cys
XM_024453100.1:c.68774A>G (TTN)	XP_024308868.1:p.Tyr22925Cys