Canonical Allele Identifier: CA349490088

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1323009434
• gnomAD v3: 2-178548763-G-T
• gnomAD v4: 2-178548763-G-T
• MyVariant Identifiers: chr2:g.179413490G>T (hg19) ; chr2:g.178548763G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178548763G>T , CM000664.2:g.178548763G>T	GRCh38
NC_000002.11:g.179413490G>T , CM000664.1:g.179413490G>T	GRCh37
NC_000002.10:g.179121736G>T	NCBI36
NG_011618.3:g.287040C>A , LRG_391:g.287040C>A
NG_051363.1:g.30937G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.85159C>A (TTN)	ENSP00000343764.6:p.Pro28387Thr
ENST00000342175.11:c.66244C>A (TTN)	ENSP00000340554.6:p.Pro22082Thr
ENST00000359218.10:c.66043C>A (TTN)	ENSP00000352154.5:p.Pro22015Thr
ENST00000342175.10:c.66244C>A (TTN)	ENSP00000340554.6:p.Pro22082Thr
ENST00000342992.10:c.85159C>A (TTN)	ENSP00000343764.6:p.Pro28387Thr
ENST00000359218.9:c.66043C>A (TTN)	ENSP00000352154.5:p.Pro22015Thr
ENST00000460472.6:c.65668C>A (TTN)	ENSP00000434586.1:p.Pro21890Thr
ENST00000589042.5:c.92863C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro30955Thr
ENST00000591111.5:c.87940C>A (TTN)	ENSP00000465570.1:p.Pro29314Thr
ENST00000615779.4:c.87940C>A (TTN)	ENSP00000483597.1:p.Pro29314Thr
NM_001256850.1:c.87940C>A (TTN)	NP_001243779.1:p.Pro29314Thr
NM_001267550.2:c.92863C>A (TTN) MANE Select	NP_001254479.2:p.Pro30955Thr
NM_003319.4:c.65668C>A (TTN)	NP_003310.4:p.Pro21890Thr
NM_133378.4:c.85159C>A (TTN)	NP_596869.4:p.Pro28387Thr
NM_133432.3:c.66043C>A (TTN)	NP_597676.3:p.Pro22015Thr
NM_133437.4:c.66244C>A (TTN)	NP_597681.4:p.Pro22082Thr
NR_038271.1:n.447-22537G>T (TTN-AS1)
NR_038272.1:n.2043+6402G>T (TTN-AS1)
XM_011511729.1:c.91960C>A (TTN)	XP_011510031.1:p.Pro30654Thr
XM_011511730.1:c.65854C>A (TTN)	XP_011510032.1:p.Pro21952Thr
XM_011511731.1:c.65713C>A (TTN)	XP_011510033.1:p.Pro21905Thr
XM_017004819.1:c.91756C>A (TTN)	XP_016860308.1:p.Pro30586Thr
XM_017004820.1:c.87154C>A (TTN)	XP_016860309.1:p.Pro29052Thr
XM_017004821.1:c.87151C>A (TTN)	XP_016860310.1:p.Pro29051Thr
XM_017004822.1:c.84193C>A (TTN)	XP_016860311.1:p.Pro28065Thr
XM_017004823.1:c.65809C>A (TTN)	XP_016860312.1:p.Pro21937Thr
XM_024453094.1:c.87304C>A (TTN)	XP_024308862.1:p.Pro29102Thr
XM_024453095.1:c.87301C>A (TTN)	XP_024308863.1:p.Pro29101Thr
XM_024453096.1:c.86734C>A (TTN)	XP_024308864.1:p.Pro28912Thr
XM_024453097.1:c.84076C>A (TTN)	XP_024308865.1:p.Pro28026Thr
XM_024453098.1:c.83995C>A (TTN)	XP_024308866.1:p.Pro27999Thr
XM_024453099.1:c.65758C>A (TTN)	XP_024308867.1:p.Pro21920Thr
XM_024453100.1:c.55612C>A (TTN)	XP_024308868.1:p.Pro18538Thr