Canonical Allele Identifier: CA349406047

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1014960
• ClinVar RCV Id: RCV001313765 ; RCV003135962
• dbSNP Id: rs1688516881
• gnomAD v4: 2-178530285-T-C
• MyVariant Identifiers: chr2:g.179395012T>C (hg19) ; chr2:g.178530285T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98626A>G (TTN)	ENSP00000343764.6:p.Thr32876Ala
ENST00000342175.11:c.79711A>G (TTN)	ENSP00000340554.6:p.Thr26571Ala
ENST00000359218.10:c.79510A>G (TTN)	ENSP00000352154.5:p.Thr26504Ala
ENST00000342175.10:c.79711A>G (TTN)	ENSP00000340554.6:p.Thr26571Ala
ENST00000342992.10:c.98626A>G (TTN)	ENSP00000343764.6:p.Thr32876Ala
ENST00000359218.9:c.79510A>G (TTN)	ENSP00000352154.5:p.Thr26504Ala
ENST00000460472.6:c.79135A>G (TTN)	ENSP00000434586.1:p.Thr26379Ala
ENST00000589042.5:c.106330A>G (TTN) MANE Select	ENSP00000467141.1:p.Thr35444Ala
ENST00000591111.5:c.101407A>G (TTN)	ENSP00000465570.1:p.Thr33803Ala
ENST00000615779.4:c.101407A>G (TTN)	ENSP00000483597.1:p.Thr33803Ala
NM_001256850.1:c.101407A>G (TTN)	NP_001243779.1:p.Thr33803Ala
NM_001267550.2:c.106330A>G (TTN) MANE Select	NP_001254479.2:p.Thr35444Ala
NM_003319.4:c.79135A>G (TTN)	NP_003310.4:p.Thr26379Ala
NM_133378.4:c.98626A>G (TTN)	NP_596869.4:p.Thr32876Ala
NM_133432.3:c.79510A>G (TTN)	NP_597676.3:p.Thr26504Ala
NM_133437.4:c.79711A>G (TTN)	NP_597681.4:p.Thr26571Ala
NR_038271.1:n.446+6649T>C (TTN-AS1)
NR_038272.1:n.220-5447T>C (TTN-AS1)
XM_011511729.1:c.105427A>G (TTN)	XP_011510031.1:p.Thr35143Ala
XM_011511730.1:c.79321A>G (TTN)	XP_011510032.1:p.Thr26441Ala
XM_011511731.1:c.79180A>G (TTN)	XP_011510033.1:p.Thr26394Ala
XM_017004819.1:c.105223A>G (TTN)	XP_016860308.1:p.Thr35075Ala
XM_017004820.1:c.100621A>G (TTN)	XP_016860309.1:p.Thr33541Ala
XM_017004821.1:c.100618A>G (TTN)	XP_016860310.1:p.Thr33540Ala
XM_017004822.1:c.97660A>G (TTN)	XP_016860311.1:p.Thr32554Ala
XM_017004823.1:c.79276A>G (TTN)	XP_016860312.1:p.Thr26426Ala
XM_024453094.1:c.100771A>G (TTN)	XP_024308862.1:p.Thr33591Ala
XM_024453095.1:c.100768A>G (TTN)	XP_024308863.1:p.Thr33590Ala
XM_024453096.1:c.100201A>G (TTN)	XP_024308864.1:p.Thr33401Ala
XM_024453097.1:c.97543A>G (TTN)	XP_024308865.1:p.Thr32515Ala
XM_024453098.1:c.97462A>G (TTN)	XP_024308866.1:p.Thr32488Ala
XM_024453099.1:c.79225A>G (TTN)	XP_024308867.1:p.Thr26409Ala
XM_024453100.1:c.69079A>G (TTN)	XP_024308868.1:p.Thr23027Ala