Canonical Allele Identifier: CA349490055

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1371353912
• gnomAD v2: 2-179413489-G-A
• gnomAD v4: 2-178548762-G-A
• MyVariant Identifiers: chr2:g.179413489G>A (hg19) ; chr2:g.178548762G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178548762G>A , CM000664.2:g.178548762G>A	GRCh38
NC_000002.11:g.179413489G>A , CM000664.1:g.179413489G>A	GRCh37
NC_000002.10:g.179121735G>A	NCBI36
NG_011618.3:g.287041C>T , LRG_391:g.287041C>T
NG_051363.1:g.30936G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.85160C>T (TTN)	ENSP00000343764.6:p.Pro28387Leu
ENST00000342175.11:c.66245C>T (TTN)	ENSP00000340554.6:p.Pro22082Leu
ENST00000359218.10:c.66044C>T (TTN)	ENSP00000352154.5:p.Pro22015Leu
ENST00000342175.10:c.66245C>T (TTN)	ENSP00000340554.6:p.Pro22082Leu
ENST00000342992.10:c.85160C>T (TTN)	ENSP00000343764.6:p.Pro28387Leu
ENST00000359218.9:c.66044C>T (TTN)	ENSP00000352154.5:p.Pro22015Leu
ENST00000460472.6:c.65669C>T (TTN)	ENSP00000434586.1:p.Pro21890Leu
ENST00000589042.5:c.92864C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro30955Leu
ENST00000591111.5:c.87941C>T (TTN)	ENSP00000465570.1:p.Pro29314Leu
ENST00000615779.4:c.87941C>T (TTN)	ENSP00000483597.1:p.Pro29314Leu
NM_001256850.1:c.87941C>T (TTN)	NP_001243779.1:p.Pro29314Leu
NM_001267550.2:c.92864C>T (TTN) MANE Select	NP_001254479.2:p.Pro30955Leu
NM_003319.4:c.65669C>T (TTN)	NP_003310.4:p.Pro21890Leu
NM_133378.4:c.85160C>T (TTN)	NP_596869.4:p.Pro28387Leu
NM_133432.3:c.66044C>T (TTN)	NP_597676.3:p.Pro22015Leu
NM_133437.4:c.66245C>T (TTN)	NP_597681.4:p.Pro22082Leu
NR_038271.1:n.447-22538G>A (TTN-AS1)
NR_038272.1:n.2043+6401G>A (TTN-AS1)
XM_011511729.1:c.91961C>T (TTN)	XP_011510031.1:p.Pro30654Leu
XM_011511730.1:c.65855C>T (TTN)	XP_011510032.1:p.Pro21952Leu
XM_011511731.1:c.65714C>T (TTN)	XP_011510033.1:p.Pro21905Leu
XM_017004819.1:c.91757C>T (TTN)	XP_016860308.1:p.Pro30586Leu
XM_017004820.1:c.87155C>T (TTN)	XP_016860309.1:p.Pro29052Leu
XM_017004821.1:c.87152C>T (TTN)	XP_016860310.1:p.Pro29051Leu
XM_017004822.1:c.84194C>T (TTN)	XP_016860311.1:p.Pro28065Leu
XM_017004823.1:c.65810C>T (TTN)	XP_016860312.1:p.Pro21937Leu
XM_024453094.1:c.87305C>T (TTN)	XP_024308862.1:p.Pro29102Leu
XM_024453095.1:c.87302C>T (TTN)	XP_024308863.1:p.Pro29101Leu
XM_024453096.1:c.86735C>T (TTN)	XP_024308864.1:p.Pro28912Leu
XM_024453097.1:c.84077C>T (TTN)	XP_024308865.1:p.Pro28026Leu
XM_024453098.1:c.83996C>T (TTN)	XP_024308866.1:p.Pro27999Leu
XM_024453099.1:c.65759C>T (TTN)	XP_024308867.1:p.Pro21920Leu
XM_024453100.1:c.55613C>T (TTN)	XP_024308868.1:p.Pro18538Leu