Canonical Allele Identifier: CA349581113

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179429237C>G (hg19) ; chr2:g.178564510C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564510C>G , CM000664.2:g.178564510C>G	GRCh38
NC_000002.11:g.179429237C>G , CM000664.1:g.179429237C>G	GRCh37
NC_000002.10:g.179137483C>G	NCBI36
NG_011618.3:g.271293G>C , LRG_391:g.271293G>C
NG_051363.1:g.46684C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73918G>C (TTN)	ENSP00000343764.6:p.Glu24640Gln
ENST00000342175.11:c.55003G>C (TTN)	ENSP00000340554.6:p.Glu18335Gln
ENST00000359218.10:c.54802G>C (TTN)	ENSP00000352154.5:p.Glu18268Gln
ENST00000342175.10:c.55003G>C (TTN)	ENSP00000340554.6:p.Glu18335Gln
ENST00000342992.10:c.73918G>C (TTN)	ENSP00000343764.6:p.Glu24640Gln
ENST00000359218.9:c.54802G>C (TTN)	ENSP00000352154.5:p.Glu18268Gln
ENST00000460472.6:c.54427G>C (TTN)	ENSP00000434586.1:p.Glu18143Gln
ENST00000589042.5:c.81622G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu27208Gln
ENST00000591111.5:c.76699G>C (TTN)	ENSP00000465570.1:p.Glu25567Gln
ENST00000615779.4:c.76699G>C (TTN)	ENSP00000483597.1:p.Glu25567Gln
NM_001256850.1:c.76699G>C (TTN)	NP_001243779.1:p.Glu25567Gln
NM_001267550.2:c.81622G>C (TTN) MANE Select	NP_001254479.2:p.Glu27208Gln
NM_003319.4:c.54427G>C (TTN)	NP_003310.4:p.Glu18143Gln
NM_133378.4:c.73918G>C (TTN)	NP_596869.4:p.Glu24640Gln
NM_133432.3:c.54802G>C (TTN)	NP_597676.3:p.Glu18268Gln
NM_133437.4:c.55003G>C (TTN)	NP_597681.4:p.Glu18335Gln
NR_038271.1:n.447-6790C>G (TTN-AS1)
NR_038272.1:n.2044-18062C>G (TTN-AS1)
XM_011511729.1:c.80719G>C (TTN)	XP_011510031.1:p.Glu26907Gln
XM_011511730.1:c.54613G>C (TTN)	XP_011510032.1:p.Glu18205Gln
XM_011511731.1:c.54472G>C (TTN)	XP_011510033.1:p.Glu18158Gln
XM_017004819.1:c.80515G>C (TTN)	XP_016860308.1:p.Glu26839Gln
XM_017004820.1:c.75913G>C (TTN)	XP_016860309.1:p.Glu25305Gln
XM_017004821.1:c.75910G>C (TTN)	XP_016860310.1:p.Glu25304Gln
XM_017004822.1:c.72952G>C (TTN)	XP_016860311.1:p.Glu24318Gln
XM_017004823.1:c.54568G>C (TTN)	XP_016860312.1:p.Glu18190Gln
XM_024453094.1:c.76063G>C (TTN)	XP_024308862.1:p.Glu25355Gln
XM_024453095.1:c.76060G>C (TTN)	XP_024308863.1:p.Glu25354Gln
XM_024453096.1:c.75493G>C (TTN)	XP_024308864.1:p.Glu25165Gln
XM_024453097.1:c.72835G>C (TTN)	XP_024308865.1:p.Glu24279Gln
XM_024453098.1:c.72754G>C (TTN)	XP_024308866.1:p.Glu24252Gln
XM_024453099.1:c.54517G>C (TTN)	XP_024308867.1:p.Glu18173Gln
XM_024453100.1:c.44371G>C (TTN)	XP_024308868.1:p.Glu14791Gln