Canonical Allele Identifier: CA10581861

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 238805
• ClinVar RCV Id: RCV000226895
• dbSNP Id: rs878854318
• MyVariant Identifiers: chr2:g.179463336G>T (hg19) ; chr2:g.178598609G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178598609G>T , CM000664.2:g.178598609G>T	GRCh38
NC_000002.11:g.179463336G>T , CM000664.1:g.179463336G>T	GRCh37
NC_000002.10:g.179171581G>T	NCBI36
NG_011618.3:g.237194C>A , LRG_391:g.237194C>A
NG_051363.1:g.80783G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.49304C>A (TTN)	ENSP00000343764.6:p.Ser16435Ter
ENST00000342175.11:c.30389C>A (TTN)	ENSP00000340554.6:p.Ser10130Ter
ENST00000359218.10:c.30188C>A (TTN)	ENSP00000352154.5:p.Ser10063Ter
ENST00000342175.10:c.30389C>A (TTN)	ENSP00000340554.6:p.Ser10130Ter
ENST00000342992.10:c.49304C>A (TTN)	ENSP00000343764.6:p.Ser16435Ter
ENST00000359218.9:c.30188C>A (TTN)	ENSP00000352154.5:p.Ser10063Ter
ENST00000460472.6:c.29813C>A (TTN)	ENSP00000434586.1:p.Ser9938Ter
ENST00000589042.5:c.57008C>A (TTN) MANE Select	ENSP00000467141.1:p.Ser19003Ter
ENST00000591111.5:c.52085C>A (TTN)	ENSP00000465570.1:p.Ser17362Ter
ENST00000615779.4:c.52085C>A (TTN)	ENSP00000483597.1:p.Ser17362Ter
NM_001256850.1:c.52085C>A (TTN)	NP_001243779.1:p.Ser17362Ter
NM_001267550.2:c.57008C>A (TTN) MANE Select	NP_001254479.2:p.Ser19003Ter
NM_003319.4:c.29813C>A (TTN)	NP_003310.4:p.Ser9938Ter
NM_133378.4:c.49304C>A (TTN)	NP_596869.4:p.Ser16435Ter
NM_133432.3:c.30188C>A (TTN)	NP_597676.3:p.Ser10063Ter
NM_133437.4:c.30389C>A (TTN)	NP_597681.4:p.Ser10130Ter
NR_038271.1:n.682+928G>T (TTN-AS1)
NR_038272.1:n.3504G>T (TTN-AS1)
XM_011511729.1:c.56105C>A (TTN)	XP_011510031.1:p.Ser18702Ter
XM_011511730.1:c.29999C>A (TTN)	XP_011510032.1:p.Ser10000Ter
XM_011511731.1:c.29858C>A (TTN)	XP_011510033.1:p.Ser9953Ter
XM_017004819.1:c.55901C>A (TTN)	XP_016860308.1:p.Ser18634Ter
XM_017004820.1:c.51299C>A (TTN)	XP_016860309.1:p.Ser17100Ter
XM_017004821.1:c.51296C>A (TTN)	XP_016860310.1:p.Ser17099Ter
XM_017004822.1:c.48338C>A (TTN)	XP_016860311.1:p.Ser16113Ter
XM_017004823.1:c.29954C>A (TTN)	XP_016860312.1:p.Ser9985Ter
XM_024453094.1:c.51449C>A (TTN)	XP_024308862.1:p.Ser17150Ter
XM_024453095.1:c.51446C>A (TTN)	XP_024308863.1:p.Ser17149Ter
XM_024453096.1:c.50879C>A (TTN)	XP_024308864.1:p.Ser16960Ter
XM_024453097.1:c.48221C>A (TTN)	XP_024308865.1:p.Ser16074Ter
XM_024453098.1:c.48140C>A (TTN)	XP_024308866.1:p.Ser16047Ter
XM_024453099.1:c.29903C>A (TTN)	XP_024308867.1:p.Ser9968Ter
XM_024453100.1:c.19757C>A (TTN)	XP_024308868.1:p.Ser6586Ter