Canonical Allele Identifier: CA349407153

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 862399
• ClinVar RCV Id: RCV001069114 ; RCV004528372
• dbSNP Id: rs1220665174
• gnomAD v2: 2-179395297-G-T
• gnomAD v3: 2-178530570-G-T
• gnomAD v4: 2-178530570-G-T
• MyVariant Identifiers: chr2:g.179395297G>T (hg19) ; chr2:g.178530570G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530570G>T , CM000664.2:g.178530570G>T	GRCh38
NC_000002.11:g.179395297G>T , CM000664.1:g.179395297G>T	GRCh37
NC_000002.10:g.179103543G>T	NCBI36
NG_011618.3:g.305233C>A , LRG_391:g.305233C>A
NG_051363.1:g.12744G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98341C>A (TTN)	ENSP00000343764.6:p.Leu32781Ile
ENST00000342175.11:c.79426C>A (TTN)	ENSP00000340554.6:p.Leu26476Ile
ENST00000359218.10:c.79225C>A (TTN)	ENSP00000352154.5:p.Leu26409Ile
ENST00000342175.10:c.79426C>A (TTN)	ENSP00000340554.6:p.Leu26476Ile
ENST00000342992.10:c.98341C>A (TTN)	ENSP00000343764.6:p.Leu32781Ile
ENST00000359218.9:c.79225C>A (TTN)	ENSP00000352154.5:p.Leu26409Ile
ENST00000460472.6:c.78850C>A (TTN)	ENSP00000434586.1:p.Leu26284Ile
ENST00000589042.5:c.106045C>A (TTN) MANE Select	ENSP00000467141.1:p.Leu35349Ile
ENST00000591111.5:c.101122C>A (TTN)	ENSP00000465570.1:p.Leu33708Ile
ENST00000615779.4:c.101122C>A (TTN)	ENSP00000483597.1:p.Leu33708Ile
NM_001256850.1:c.101122C>A (TTN)	NP_001243779.1:p.Leu33708Ile
NM_001267550.2:c.106045C>A (TTN) MANE Select	NP_001254479.2:p.Leu35349Ile
NM_003319.4:c.78850C>A (TTN)	NP_003310.4:p.Leu26284Ile
NM_133378.4:c.98341C>A (TTN)	NP_596869.4:p.Leu32781Ile
NM_133432.3:c.79225C>A (TTN)	NP_597676.3:p.Leu26409Ile
NM_133437.4:c.79426C>A (TTN)	NP_597681.4:p.Leu26476Ile
NR_038271.1:n.446+6934G>T (TTN-AS1)
NR_038272.1:n.220-5162G>T (TTN-AS1)
XM_011511729.1:c.105142C>A (TTN)	XP_011510031.1:p.Leu35048Ile
XM_011511730.1:c.79036C>A (TTN)	XP_011510032.1:p.Leu26346Ile
XM_011511731.1:c.78895C>A (TTN)	XP_011510033.1:p.Leu26299Ile
XM_017004819.1:c.104938C>A (TTN)	XP_016860308.1:p.Leu34980Ile
XM_017004820.1:c.100336C>A (TTN)	XP_016860309.1:p.Leu33446Ile
XM_017004821.1:c.100333C>A (TTN)	XP_016860310.1:p.Leu33445Ile
XM_017004822.1:c.97375C>A (TTN)	XP_016860311.1:p.Leu32459Ile
XM_017004823.1:c.78991C>A (TTN)	XP_016860312.1:p.Leu26331Ile
XM_024453094.1:c.100486C>A (TTN)	XP_024308862.1:p.Leu33496Ile
XM_024453095.1:c.100483C>A (TTN)	XP_024308863.1:p.Leu33495Ile
XM_024453096.1:c.99916C>A (TTN)	XP_024308864.1:p.Leu33306Ile
XM_024453097.1:c.97258C>A (TTN)	XP_024308865.1:p.Leu32420Ile
XM_024453098.1:c.97177C>A (TTN)	XP_024308866.1:p.Leu32393Ile
XM_024453099.1:c.78940C>A (TTN)	XP_024308867.1:p.Leu26314Ile
XM_024453100.1:c.68794C>A (TTN)	XP_024308868.1:p.Leu22932Ile