Canonical Allele Identifier: CA349427701

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179402255C>G (hg19) ; chr2:g.178537528C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537528C>G , CM000664.2:g.178537528C>G	GRCh38
NC_000002.11:g.179402255C>G , CM000664.1:g.179402255C>G	GRCh37
NC_000002.10:g.179110501C>G	NCBI36
NG_011618.3:g.298275G>C , LRG_391:g.298275G>C
NG_051363.1:g.19702C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91975G>C (TTN)	ENSP00000343764.6:p.Ala30659Pro
ENST00000342175.11:c.73060G>C (TTN)	ENSP00000340554.6:p.Ala24354Pro
ENST00000359218.10:c.72859G>C (TTN)	ENSP00000352154.5:p.Ala24287Pro
ENST00000342175.10:c.73060G>C (TTN)	ENSP00000340554.6:p.Ala24354Pro
ENST00000342992.10:c.91975G>C (TTN)	ENSP00000343764.6:p.Ala30659Pro
ENST00000359218.9:c.72859G>C (TTN)	ENSP00000352154.5:p.Ala24287Pro
ENST00000460472.6:c.72484G>C (TTN)	ENSP00000434586.1:p.Ala24162Pro
ENST00000589042.5:c.99679G>C (TTN) MANE Select	ENSP00000467141.1:p.Ala33227Pro
ENST00000591111.5:c.94756G>C (TTN)	ENSP00000465570.1:p.Ala31586Pro
ENST00000615779.4:c.94756G>C (TTN)	ENSP00000483597.1:p.Ala31586Pro
NM_001256850.1:c.94756G>C (TTN)	NP_001243779.1:p.Ala31586Pro
NM_001267550.2:c.99679G>C (TTN) MANE Select	NP_001254479.2:p.Ala33227Pro
NM_003319.4:c.72484G>C (TTN)	NP_003310.4:p.Ala24162Pro
NM_133378.4:c.91975G>C (TTN)	NP_596869.4:p.Ala30659Pro
NM_133432.3:c.72859G>C (TTN)	NP_597676.3:p.Ala24287Pro
NM_133437.4:c.73060G>C (TTN)	NP_597681.4:p.Ala24354Pro
NR_038271.1:n.446+13892C>G (TTN-AS1)
NR_038272.1:n.484C>G (TTN-AS1)
XM_011511729.1:c.98776G>C (TTN)	XP_011510031.1:p.Ala32926Pro
XM_011511730.1:c.72670G>C (TTN)	XP_011510032.1:p.Ala24224Pro
XM_011511731.1:c.72529G>C (TTN)	XP_011510033.1:p.Ala24177Pro
XM_017004819.1:c.98572G>C (TTN)	XP_016860308.1:p.Ala32858Pro
XM_017004820.1:c.93970G>C (TTN)	XP_016860309.1:p.Ala31324Pro
XM_017004821.1:c.93967G>C (TTN)	XP_016860310.1:p.Ala31323Pro
XM_017004822.1:c.91009G>C (TTN)	XP_016860311.1:p.Ala30337Pro
XM_017004823.1:c.72625G>C (TTN)	XP_016860312.1:p.Ala24209Pro
XM_024453094.1:c.94120G>C (TTN)	XP_024308862.1:p.Ala31374Pro
XM_024453095.1:c.94117G>C (TTN)	XP_024308863.1:p.Ala31373Pro
XM_024453096.1:c.93550G>C (TTN)	XP_024308864.1:p.Ala31184Pro
XM_024453097.1:c.90892G>C (TTN)	XP_024308865.1:p.Ala30298Pro
XM_024453098.1:c.90811G>C (TTN)	XP_024308866.1:p.Ala30271Pro
XM_024453099.1:c.72574G>C (TTN)	XP_024308867.1:p.Ala24192Pro
XM_024453100.1:c.62428G>C (TTN)	XP_024308868.1:p.Ala20810Pro