Canonical Allele Identifier: CA349646377

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179495662T>G (hg19) ; chr2:g.178630935T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630935T>G , CM000664.2:g.178630935T>G	GRCh38
NC_000002.11:g.179495662T>G , CM000664.1:g.179495662T>G	GRCh37
NC_000002.10:g.179203907T>G	NCBI36
NG_011618.3:g.204868A>C , LRG_391:g.204868A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36319A>C	ENSP00000343764.6:p.Ile12107Leu
ENST00000342175.11:c.17404A>C	ENSP00000340554.6:p.Ile5802Leu
ENST00000359218.10:c.17203A>C	ENSP00000352154.5:p.Ile5735Leu
ENST00000342175.10:c.17404A>C	ENSP00000340554.6:p.Ile5802Leu
ENST00000342992.10:c.36319A>C	ENSP00000343764.6:p.Ile12107Leu
ENST00000359218.9:c.17203A>C	ENSP00000352154.5:p.Ile5735Leu
ENST00000460472.6:c.16828A>C	ENSP00000434586.1:p.Ile5610Leu
ENST00000589042.5:c.44023A>C MANE Select	ENSP00000467141.1:p.Ile14675Leu
ENST00000591111.5:c.39100A>C	ENSP00000465570.1:p.Ile13034Leu
ENST00000615779.4:c.39100A>C	ENSP00000483597.1:p.Ile13034Leu
NM_001256850.1:c.39100A>C	NP_001243779.1:p.Ile13034Leu
NM_001267550.2:c.44023A>C MANE Select	NP_001254479.2:p.Ile14675Leu
NM_003319.4:c.16828A>C	NP_003310.4:p.Ile5610Leu
NM_133378.4:c.36319A>C	NP_596869.4:p.Ile12107Leu
NM_133432.3:c.17203A>C	NP_597676.3:p.Ile5735Leu
NM_133437.4:c.17404A>C	NP_597681.4:p.Ile5802Leu
XM_011511729.1:c.43120A>C	XP_011510031.1:p.Ile14374Leu
XM_011511730.1:c.17014A>C	XP_011510032.1:p.Ile5672Leu
XM_011511731.1:c.16873A>C	XP_011510033.1:p.Ile5625Leu
XM_017004819.1:c.42916A>C	XP_016860308.1:p.Ile14306Leu
XM_017004820.1:c.38314A>C	XP_016860309.1:p.Ile12772Leu
XM_017004821.1:c.38311A>C	XP_016860310.1:p.Ile12771Leu
XM_017004822.1:c.35353A>C	XP_016860311.1:p.Ile11785Leu
XM_017004823.1:c.16969A>C	XP_016860312.1:p.Ile5657Leu
XM_024453094.1:c.38464A>C	XP_024308862.1:p.Ile12822Leu
XM_024453095.1:c.38461A>C	XP_024308863.1:p.Ile12821Leu
XM_024453096.1:c.37894A>C	XP_024308864.1:p.Ile12632Leu
XM_024453097.1:c.35236A>C	XP_024308865.1:p.Ile11746Leu
XM_024453098.1:c.35155A>C	XP_024308866.1:p.Ile11719Leu
XM_024453099.1:c.16918A>C	XP_024308867.1:p.Ile5640Leu
XM_024453100.1:c.6772A>C	XP_024308868.1:p.Ile2258Leu