Canonical Allele Identifier: CA349620956

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435177G>C (hg19) ; chr2:g.178570450G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570450G>C , CM000664.2:g.178570450G>C	GRCh38
NC_000002.11:g.179435177G>C , CM000664.1:g.179435177G>C	GRCh37
NC_000002.10:g.179143423G>C	NCBI36
NG_011618.3:g.265353C>G , LRG_391:g.265353C>G
NG_051363.1:g.52624G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67978C>G (TTN)	ENSP00000343764.6:p.Pro22660Ala
ENST00000342175.11:c.49063C>G (TTN)	ENSP00000340554.6:p.Pro16355Ala
ENST00000359218.10:c.48862C>G (TTN)	ENSP00000352154.5:p.Pro16288Ala
ENST00000342175.10:c.49063C>G (TTN)	ENSP00000340554.6:p.Pro16355Ala
ENST00000342992.10:c.67978C>G (TTN)	ENSP00000343764.6:p.Pro22660Ala
ENST00000359218.9:c.48862C>G (TTN)	ENSP00000352154.5:p.Pro16288Ala
ENST00000460472.6:c.48487C>G (TTN)	ENSP00000434586.1:p.Pro16163Ala
ENST00000589042.5:c.75682C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro25228Ala
ENST00000591111.5:c.70759C>G (TTN)	ENSP00000465570.1:p.Pro23587Ala
ENST00000615779.4:c.70759C>G (TTN)	ENSP00000483597.1:p.Pro23587Ala
NM_001256850.1:c.70759C>G (TTN)	NP_001243779.1:p.Pro23587Ala
NM_001267550.2:c.75682C>G (TTN) MANE Select	NP_001254479.2:p.Pro25228Ala
NM_003319.4:c.48487C>G (TTN)	NP_003310.4:p.Pro16163Ala
NM_133378.4:c.67978C>G (TTN)	NP_596869.4:p.Pro22660Ala
NM_133432.3:c.48862C>G (TTN)	NP_597676.3:p.Pro16288Ala
NM_133437.4:c.49063C>G (TTN)	NP_597681.4:p.Pro16355Ala
NR_038271.1:n.447-850G>C (TTN-AS1)
NR_038272.1:n.2044-12122G>C (TTN-AS1)
XM_011511729.1:c.74779C>G (TTN)	XP_011510031.1:p.Pro24927Ala
XM_011511730.1:c.48673C>G (TTN)	XP_011510032.1:p.Pro16225Ala
XM_011511731.1:c.48532C>G (TTN)	XP_011510033.1:p.Pro16178Ala
XM_017004819.1:c.74575C>G (TTN)	XP_016860308.1:p.Pro24859Ala
XM_017004820.1:c.69973C>G (TTN)	XP_016860309.1:p.Pro23325Ala
XM_017004821.1:c.69970C>G (TTN)	XP_016860310.1:p.Pro23324Ala
XM_017004822.1:c.67012C>G (TTN)	XP_016860311.1:p.Pro22338Ala
XM_017004823.1:c.48628C>G (TTN)	XP_016860312.1:p.Pro16210Ala
XM_024453094.1:c.70123C>G (TTN)	XP_024308862.1:p.Pro23375Ala
XM_024453095.1:c.70120C>G (TTN)	XP_024308863.1:p.Pro23374Ala
XM_024453096.1:c.69553C>G (TTN)	XP_024308864.1:p.Pro23185Ala
XM_024453097.1:c.66895C>G (TTN)	XP_024308865.1:p.Pro22299Ala
XM_024453098.1:c.66814C>G (TTN)	XP_024308866.1:p.Pro22272Ala
XM_024453099.1:c.48577C>G (TTN)	XP_024308867.1:p.Pro16193Ala
XM_024453100.1:c.38431C>G (TTN)	XP_024308868.1:p.Pro12811Ala