Canonical Allele Identifier: CA16621775

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 425238
• ClinVar RCV Id: RCV000488335
• dbSNP Id: rs1064797273
• MyVariant Identifiers: chr2:g.179391759T>C (hg19) ; chr2:g.178527032T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527032T>C , CM000664.2:g.178527032T>C	GRCh38
NC_000002.11:g.179391759T>C , CM000664.1:g.179391759T>C	GRCh37
NC_000002.10:g.179100005T>C	NCBI36
NG_011618.3:g.308771A>G , LRG_391:g.308771A>G
NG_051363.1:g.9206T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.100252A>G (TTN)	ENSP00000343764.6:p.Ile33418Val
ENST00000342175.11:c.81337A>G (TTN)	ENSP00000340554.6:p.Ile27113Val
ENST00000359218.10:c.81136A>G (TTN)	ENSP00000352154.5:p.Ile27046Val
ENST00000342175.10:c.81337A>G (TTN)	ENSP00000340554.6:p.Ile27113Val
ENST00000342992.10:c.100252A>G (TTN)	ENSP00000343764.6:p.Ile33418Val
ENST00000359218.9:c.81136A>G (TTN)	ENSP00000352154.5:p.Ile27046Val
ENST00000460472.6:c.80761A>G (TTN)	ENSP00000434586.1:p.Ile26921Val
ENST00000589042.5:c.107956A>G (TTN) MANE Select	ENSP00000467141.1:p.Ile35986Val
ENST00000591111.5:c.103033A>G (TTN)	ENSP00000465570.1:p.Ile34345Val
ENST00000615779.4:c.103033A>G (TTN)	ENSP00000483597.1:p.Ile34345Val
NM_001256850.1:c.103033A>G (TTN)	NP_001243779.1:p.Ile34345Val
NM_001267550.2:c.107956A>G (TTN) MANE Select	NP_001254479.2:p.Ile35986Val
NM_003319.4:c.80761A>G (TTN)	NP_003310.4:p.Ile26921Val
NM_133378.4:c.100252A>G (TTN)	NP_596869.4:p.Ile33418Val
NM_133432.3:c.81136A>G (TTN)	NP_597676.3:p.Ile27046Val
NM_133437.4:c.81337A>G (TTN)	NP_597681.4:p.Ile27113Val
NR_038271.1:n.446+3396T>C (TTN-AS1)
NR_038272.1:n.219+3396T>C (TTN-AS1)
XM_011511729.1:c.107053A>G (TTN)	XP_011510031.1:p.Ile35685Val
XM_011511730.1:c.80947A>G (TTN)	XP_011510032.1:p.Ile26983Val
XM_011511731.1:c.80806A>G (TTN)	XP_011510033.1:p.Ile26936Val
XM_017004819.1:c.106849A>G (TTN)	XP_016860308.1:p.Ile35617Val
XM_017004820.1:c.102247A>G (TTN)	XP_016860309.1:p.Ile34083Val
XM_017004821.1:c.102244A>G (TTN)	XP_016860310.1:p.Ile34082Val
XM_017004822.1:c.99286A>G (TTN)	XP_016860311.1:p.Ile33096Val
XM_017004823.1:c.80902A>G (TTN)	XP_016860312.1:p.Ile26968Val
XM_024453094.1:c.102397A>G (TTN)	XP_024308862.1:p.Ile34133Val
XM_024453095.1:c.102394A>G (TTN)	XP_024308863.1:p.Ile34132Val
XM_024453096.1:c.101827A>G (TTN)	XP_024308864.1:p.Ile33943Val
XM_024453097.1:c.99169A>G (TTN)	XP_024308865.1:p.Ile33057Val
XM_024453098.1:c.99088A>G (TTN)	XP_024308866.1:p.Ile33030Val
XM_024453099.1:c.80851A>G (TTN)	XP_024308867.1:p.Ile26951Val
XM_024453100.1:c.70705A>G (TTN)	XP_024308868.1:p.Ile23569Val