Canonical Allele Identifier: CA430241568

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1661731
• ClinVar RCV Id: RCV002193224
• dbSNP Id: rs2154144025
• MyVariant Identifiers: chr2:g.179408829A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544102A>C , CM000664.2:g.178544102A>C	GRCh38
NC_000002.11:g.179408829A>C , CM000664.1:g.179408829A>C	GRCh37
NC_000002.10:g.179117075A>C	NCBI36
NG_011618.3:g.291701T>G , LRG_391:g.291701T>G
NG_051363.1:g.26276A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88338T>G (TTN)	ENSP00000343764.6:p.Leu29446=
ENST00000342175.11:c.69423T>G (TTN)	ENSP00000340554.6:p.Leu23141=
ENST00000359218.10:c.69222T>G (TTN)	ENSP00000352154.5:p.Leu23074=
ENST00000342175.10:c.69423T>G (TTN)	ENSP00000340554.6:p.Leu23141=
ENST00000342992.10:c.88338T>G (TTN)	ENSP00000343764.6:p.Leu29446=
ENST00000359218.9:c.69222T>G (TTN)	ENSP00000352154.5:p.Leu23074=
ENST00000460472.6:c.68847T>G (TTN)	ENSP00000434586.1:p.Leu22949=
ENST00000589042.5:c.96042T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu32014=
ENST00000591111.5:c.91119T>G (TTN)	ENSP00000465570.1:p.Leu30373=
ENST00000615779.4:c.91119T>G (TTN)	ENSP00000483597.1:p.Leu30373=
NM_001256850.1:c.91119T>G (TTN)	NP_001243779.1:p.Leu30373=
NM_001267550.2:c.96042T>G (TTN) MANE Select	NP_001254479.2:p.Leu32014=
NM_003319.4:c.68847T>G (TTN)	NP_003310.4:p.Leu22949=
NM_133378.4:c.88338T>G (TTN)	NP_596869.4:p.Leu29446=
NM_133432.3:c.69222T>G (TTN)	NP_597676.3:p.Leu23074=
NM_133437.4:c.69423T>G (TTN)	NP_597681.4:p.Leu23141=
NR_038271.1:n.446+20466A>C (TTN-AS1)
NR_038272.1:n.2043+1741A>C (TTN-AS1)
XM_011511729.1:c.95139T>G (TTN)	XP_011510031.1:p.Leu31713=
XM_011511730.1:c.69033T>G (TTN)	XP_011510032.1:p.Leu23011=
XM_011511731.1:c.68892T>G (TTN)	XP_011510033.1:p.Leu22964=
XM_017004819.1:c.94935T>G (TTN)	XP_016860308.1:p.Leu31645=
XM_017004820.1:c.90333T>G (TTN)	XP_016860309.1:p.Leu30111=
XM_017004821.1:c.90330T>G (TTN)	XP_016860310.1:p.Leu30110=
XM_017004822.1:c.87372T>G (TTN)	XP_016860311.1:p.Leu29124=
XM_017004823.1:c.68988T>G (TTN)	XP_016860312.1:p.Leu22996=
XM_024453094.1:c.90483T>G (TTN)	XP_024308862.1:p.Leu30161=
XM_024453095.1:c.90480T>G (TTN)	XP_024308863.1:p.Leu30160=
XM_024453096.1:c.89913T>G (TTN)	XP_024308864.1:p.Leu29971=
XM_024453097.1:c.87255T>G (TTN)	XP_024308865.1:p.Leu29085=
XM_024453098.1:c.87174T>G (TTN)	XP_024308866.1:p.Leu29058=
XM_024453099.1:c.68937T>G (TTN)	XP_024308867.1:p.Leu22979=
XM_024453100.1:c.58791T>G (TTN)	XP_024308868.1:p.Leu19597=