Canonical Allele Identifier: CA349450711

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408600A>G (hg19) ; chr2:g.178543873A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543873A>G , CM000664.2:g.178543873A>G	GRCh38
NC_000002.11:g.179408600A>G , CM000664.1:g.179408600A>G	GRCh37
NC_000002.10:g.179116846A>G	NCBI36
NG_011618.3:g.291930T>C , LRG_391:g.291930T>C
NG_051363.1:g.26047A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88567T>C (TTN)	ENSP00000343764.6:p.Ser29523Pro
ENST00000342175.11:c.69652T>C (TTN)	ENSP00000340554.6:p.Ser23218Pro
ENST00000359218.10:c.69451T>C (TTN)	ENSP00000352154.5:p.Ser23151Pro
ENST00000342175.10:c.69652T>C (TTN)	ENSP00000340554.6:p.Ser23218Pro
ENST00000342992.10:c.88567T>C (TTN)	ENSP00000343764.6:p.Ser29523Pro
ENST00000359218.9:c.69451T>C (TTN)	ENSP00000352154.5:p.Ser23151Pro
ENST00000460472.6:c.69076T>C (TTN)	ENSP00000434586.1:p.Ser23026Pro
ENST00000589042.5:c.96271T>C (TTN) MANE Select	ENSP00000467141.1:p.Ser32091Pro
ENST00000591111.5:c.91348T>C (TTN)	ENSP00000465570.1:p.Ser30450Pro
ENST00000615779.4:c.91348T>C (TTN)	ENSP00000483597.1:p.Ser30450Pro
NM_001256850.1:c.91348T>C (TTN)	NP_001243779.1:p.Ser30450Pro
NM_001267550.2:c.96271T>C (TTN) MANE Select	NP_001254479.2:p.Ser32091Pro
NM_003319.4:c.69076T>C (TTN)	NP_003310.4:p.Ser23026Pro
NM_133378.4:c.88567T>C (TTN)	NP_596869.4:p.Ser29523Pro
NM_133432.3:c.69451T>C (TTN)	NP_597676.3:p.Ser23151Pro
NM_133437.4:c.69652T>C (TTN)	NP_597681.4:p.Ser23218Pro
NR_038271.1:n.446+20237A>G (TTN-AS1)
NR_038272.1:n.2043+1512A>G (TTN-AS1)
XM_011511729.1:c.95368T>C (TTN)	XP_011510031.1:p.Ser31790Pro
XM_011511730.1:c.69262T>C (TTN)	XP_011510032.1:p.Ser23088Pro
XM_011511731.1:c.69121T>C (TTN)	XP_011510033.1:p.Ser23041Pro
XM_017004819.1:c.95164T>C (TTN)	XP_016860308.1:p.Ser31722Pro
XM_017004820.1:c.90562T>C (TTN)	XP_016860309.1:p.Ser30188Pro
XM_017004821.1:c.90559T>C (TTN)	XP_016860310.1:p.Ser30187Pro
XM_017004822.1:c.87601T>C (TTN)	XP_016860311.1:p.Ser29201Pro
XM_017004823.1:c.69217T>C (TTN)	XP_016860312.1:p.Ser23073Pro
XM_024453094.1:c.90712T>C (TTN)	XP_024308862.1:p.Ser30238Pro
XM_024453095.1:c.90709T>C (TTN)	XP_024308863.1:p.Ser30237Pro
XM_024453096.1:c.90142T>C (TTN)	XP_024308864.1:p.Ser30048Pro
XM_024453097.1:c.87484T>C (TTN)	XP_024308865.1:p.Ser29162Pro
XM_024453098.1:c.87403T>C (TTN)	XP_024308866.1:p.Ser29135Pro
XM_024453099.1:c.69166T>C (TTN)	XP_024308867.1:p.Ser23056Pro
XM_024453100.1:c.59020T>C (TTN)	XP_024308868.1:p.Ser19674Pro