Canonical Allele Identifier: CA349406045

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 863553
• ClinVar RCV Id: RCV001070546
• dbSNP Id: rs1688516881
• MyVariant Identifiers: chr2:g.179395012T>A (hg19) ; chr2:g.178530285T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530285T>A , CM000664.2:g.178530285T>A	GRCh38
NC_000002.11:g.179395012T>A , CM000664.1:g.179395012T>A	GRCh37
NC_000002.10:g.179103258T>A	NCBI36
NG_011618.3:g.305518A>T , LRG_391:g.305518A>T
NG_051363.1:g.12459T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98626A>T (TTN)	ENSP00000343764.6:p.Thr32876Ser
ENST00000342175.11:c.79711A>T (TTN)	ENSP00000340554.6:p.Thr26571Ser
ENST00000359218.10:c.79510A>T (TTN)	ENSP00000352154.5:p.Thr26504Ser
ENST00000342175.10:c.79711A>T (TTN)	ENSP00000340554.6:p.Thr26571Ser
ENST00000342992.10:c.98626A>T (TTN)	ENSP00000343764.6:p.Thr32876Ser
ENST00000359218.9:c.79510A>T (TTN)	ENSP00000352154.5:p.Thr26504Ser
ENST00000460472.6:c.79135A>T (TTN)	ENSP00000434586.1:p.Thr26379Ser
ENST00000589042.5:c.106330A>T (TTN) MANE Select	ENSP00000467141.1:p.Thr35444Ser
ENST00000591111.5:c.101407A>T (TTN)	ENSP00000465570.1:p.Thr33803Ser
ENST00000615779.4:c.101407A>T (TTN)	ENSP00000483597.1:p.Thr33803Ser
NM_001256850.1:c.101407A>T (TTN)	NP_001243779.1:p.Thr33803Ser
NM_001267550.2:c.106330A>T (TTN) MANE Select	NP_001254479.2:p.Thr35444Ser
NM_003319.4:c.79135A>T (TTN)	NP_003310.4:p.Thr26379Ser
NM_133378.4:c.98626A>T (TTN)	NP_596869.4:p.Thr32876Ser
NM_133432.3:c.79510A>T (TTN)	NP_597676.3:p.Thr26504Ser
NM_133437.4:c.79711A>T (TTN)	NP_597681.4:p.Thr26571Ser
NR_038271.1:n.446+6649T>A (TTN-AS1)
NR_038272.1:n.220-5447T>A (TTN-AS1)
XM_011511729.1:c.105427A>T (TTN)	XP_011510031.1:p.Thr35143Ser
XM_011511730.1:c.79321A>T (TTN)	XP_011510032.1:p.Thr26441Ser
XM_011511731.1:c.79180A>T (TTN)	XP_011510033.1:p.Thr26394Ser
XM_017004819.1:c.105223A>T (TTN)	XP_016860308.1:p.Thr35075Ser
XM_017004820.1:c.100621A>T (TTN)	XP_016860309.1:p.Thr33541Ser
XM_017004821.1:c.100618A>T (TTN)	XP_016860310.1:p.Thr33540Ser
XM_017004822.1:c.97660A>T (TTN)	XP_016860311.1:p.Thr32554Ser
XM_017004823.1:c.79276A>T (TTN)	XP_016860312.1:p.Thr26426Ser
XM_024453094.1:c.100771A>T (TTN)	XP_024308862.1:p.Thr33591Ser
XM_024453095.1:c.100768A>T (TTN)	XP_024308863.1:p.Thr33590Ser
XM_024453096.1:c.100201A>T (TTN)	XP_024308864.1:p.Thr33401Ser
XM_024453097.1:c.97543A>T (TTN)	XP_024308865.1:p.Thr32515Ser
XM_024453098.1:c.97462A>T (TTN)	XP_024308866.1:p.Thr32488Ser
XM_024453099.1:c.79225A>T (TTN)	XP_024308867.1:p.Thr26409Ser
XM_024453100.1:c.69079A>T (TTN)	XP_024308868.1:p.Thr23027Ser