Canonical Allele Identifier: CA349427938

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179402366G>C (hg19) ; chr2:g.178537639G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537639G>C , CM000664.2:g.178537639G>C	GRCh38
NC_000002.11:g.179402366G>C , CM000664.1:g.179402366G>C	GRCh37
NC_000002.10:g.179110612G>C	NCBI36
NG_011618.3:g.298164C>G , LRG_391:g.298164C>G
NG_051363.1:g.19813G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91864C>G (TTN)	ENSP00000343764.6:p.Leu30622Val
ENST00000342175.11:c.72949C>G (TTN)	ENSP00000340554.6:p.Leu24317Val
ENST00000359218.10:c.72748C>G (TTN)	ENSP00000352154.5:p.Leu24250Val
ENST00000342175.10:c.72949C>G (TTN)	ENSP00000340554.6:p.Leu24317Val
ENST00000342992.10:c.91864C>G (TTN)	ENSP00000343764.6:p.Leu30622Val
ENST00000359218.9:c.72748C>G (TTN)	ENSP00000352154.5:p.Leu24250Val
ENST00000460472.6:c.72373C>G (TTN)	ENSP00000434586.1:p.Leu24125Val
ENST00000589042.5:c.99568C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu33190Val
ENST00000591111.5:c.94645C>G (TTN)	ENSP00000465570.1:p.Leu31549Val
ENST00000615779.4:c.94645C>G (TTN)	ENSP00000483597.1:p.Leu31549Val
NM_001256850.1:c.94645C>G (TTN)	NP_001243779.1:p.Leu31549Val
NM_001267550.2:c.99568C>G (TTN) MANE Select	NP_001254479.2:p.Leu33190Val
NM_003319.4:c.72373C>G (TTN)	NP_003310.4:p.Leu24125Val
NM_133378.4:c.91864C>G (TTN)	NP_596869.4:p.Leu30622Val
NM_133432.3:c.72748C>G (TTN)	NP_597676.3:p.Leu24250Val
NM_133437.4:c.72949C>G (TTN)	NP_597681.4:p.Leu24317Val
NR_038271.1:n.446+14003G>C (TTN-AS1)
NR_038272.1:n.595G>C (TTN-AS1)
XM_011511729.1:c.98665C>G (TTN)	XP_011510031.1:p.Leu32889Val
XM_011511730.1:c.72559C>G (TTN)	XP_011510032.1:p.Leu24187Val
XM_011511731.1:c.72418C>G (TTN)	XP_011510033.1:p.Leu24140Val
XM_017004819.1:c.98461C>G (TTN)	XP_016860308.1:p.Leu32821Val
XM_017004820.1:c.93859C>G (TTN)	XP_016860309.1:p.Leu31287Val
XM_017004821.1:c.93856C>G (TTN)	XP_016860310.1:p.Leu31286Val
XM_017004822.1:c.90898C>G (TTN)	XP_016860311.1:p.Leu30300Val
XM_017004823.1:c.72514C>G (TTN)	XP_016860312.1:p.Leu24172Val
XM_024453094.1:c.94009C>G (TTN)	XP_024308862.1:p.Leu31337Val
XM_024453095.1:c.94006C>G (TTN)	XP_024308863.1:p.Leu31336Val
XM_024453096.1:c.93439C>G (TTN)	XP_024308864.1:p.Leu31147Val
XM_024453097.1:c.90781C>G (TTN)	XP_024308865.1:p.Leu30261Val
XM_024453098.1:c.90700C>G (TTN)	XP_024308866.1:p.Leu30234Val
XM_024453099.1:c.72463C>G (TTN)	XP_024308867.1:p.Leu24155Val
XM_024453100.1:c.62317C>G (TTN)	XP_024308868.1:p.Leu20773Val