Canonical Allele Identifier: CA341209

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 12653
• ClinVar RCV Id: RCV000013489 ; RCV001378935 ; RCV001781256
• dbSNP Id: rs267607156
• MyVariant Identifiers: chr2:g.179391848A>G (hg19) ; chr2:g.178527121A>G (hg38)
• PubMed: PMID:12145747 ; PMID:20301498

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527121A>G , CM000664.2:g.178527121A>G	GRCh38
NC_000002.11:g.179391848A>G , CM000664.1:g.179391848A>G	GRCh37
NC_000002.10:g.179100094A>G	NCBI36
NG_011618.3:g.308682T>C , LRG_391:g.308682T>C
NG_051363.1:g.9295A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100163T>C (TTN)	ENSP00000343764.6:p.Leu33388Pro
ENST00000342175.11:c.81248T>C (TTN)	ENSP00000340554.6:p.Leu27083Pro
ENST00000359218.10:c.81047T>C (TTN)	ENSP00000352154.5:p.Leu27016Pro
ENST00000342175.10:c.81248T>C (TTN)	ENSP00000340554.6:p.Leu27083Pro
ENST00000342992.10:c.100163T>C (TTN)	ENSP00000343764.6:p.Leu33388Pro
ENST00000359218.9:c.81047T>C (TTN)	ENSP00000352154.5:p.Leu27016Pro
ENST00000460472.6:c.80672T>C (TTN)	ENSP00000434586.1:p.Leu26891Pro
ENST00000589042.5:c.107867T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu35956Pro
ENST00000591111.5:c.102944T>C (TTN)	ENSP00000465570.1:p.Leu34315Pro
ENST00000615779.4:c.102944T>C (TTN)	ENSP00000483597.1:p.Leu34315Pro
NM_001256850.1:c.102944T>C (TTN)	NP_001243779.1:p.Leu34315Pro
NM_001267550.2:c.107867T>C (TTN) MANE Select	NP_001254479.2:p.Leu35956Pro
NM_003319.4:c.80672T>C (TTN)	NP_003310.4:p.Leu26891Pro
NM_133378.4:c.100163T>C (TTN)	NP_596869.4:p.Leu33388Pro
NM_133432.3:c.81047T>C (TTN)	NP_597676.3:p.Leu27016Pro
NM_133437.4:c.81248T>C (TTN)	NP_597681.4:p.Leu27083Pro
NR_038271.1:n.446+3485A>G (TTN-AS1)
NR_038272.1:n.219+3485A>G (TTN-AS1)
XM_011511729.1:c.106964T>C (TTN)	XP_011510031.1:p.Leu35655Pro
XM_011511730.1:c.80858T>C (TTN)	XP_011510032.1:p.Leu26953Pro
XM_011511731.1:c.80717T>C (TTN)	XP_011510033.1:p.Leu26906Pro
XM_017004819.1:c.106760T>C (TTN)	XP_016860308.1:p.Leu35587Pro
XM_017004820.1:c.102158T>C (TTN)	XP_016860309.1:p.Leu34053Pro
XM_017004821.1:c.102155T>C (TTN)	XP_016860310.1:p.Leu34052Pro
XM_017004822.1:c.99197T>C (TTN)	XP_016860311.1:p.Leu33066Pro
XM_017004823.1:c.80813T>C (TTN)	XP_016860312.1:p.Leu26938Pro
XM_024453094.1:c.102308T>C (TTN)	XP_024308862.1:p.Leu34103Pro
XM_024453095.1:c.102305T>C (TTN)	XP_024308863.1:p.Leu34102Pro
XM_024453096.1:c.101738T>C (TTN)	XP_024308864.1:p.Leu33913Pro
XM_024453097.1:c.99080T>C (TTN)	XP_024308865.1:p.Leu33027Pro
XM_024453098.1:c.98999T>C (TTN)	XP_024308866.1:p.Leu33000Pro
XM_024453099.1:c.80762T>C (TTN)	XP_024308867.1:p.Leu26921Pro
XM_024453100.1:c.70616T>C (TTN)	XP_024308868.1:p.Leu23539Pro