Canonical Allele Identifier: CA349504296

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178551858-G-T
• MyVariant Identifiers: chr2:g.179416585G>T (hg19) ; chr2:g.178551858G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551858G>T , CM000664.2:g.178551858G>T	GRCh38
NC_000002.11:g.179416585G>T , CM000664.1:g.179416585G>T	GRCh37
NC_000002.10:g.179124831G>T	NCBI36
NG_011618.3:g.283945C>A , LRG_391:g.283945C>A
NG_051363.1:g.34032G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83338C>A (TTN)	ENSP00000343764.6:p.Pro27780Thr
ENST00000342175.11:c.64423C>A (TTN)	ENSP00000340554.6:p.Pro21475Thr
ENST00000359218.10:c.64222C>A (TTN)	ENSP00000352154.5:p.Pro21408Thr
ENST00000342175.10:c.64423C>A (TTN)	ENSP00000340554.6:p.Pro21475Thr
ENST00000342992.10:c.83338C>A (TTN)	ENSP00000343764.6:p.Pro27780Thr
ENST00000359218.9:c.64222C>A (TTN)	ENSP00000352154.5:p.Pro21408Thr
ENST00000460472.6:c.63847C>A (TTN)	ENSP00000434586.1:p.Pro21283Thr
ENST00000589042.5:c.91042C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro30348Thr
ENST00000591111.5:c.86119C>A (TTN)	ENSP00000465570.1:p.Pro28707Thr
ENST00000615779.4:c.86119C>A (TTN)	ENSP00000483597.1:p.Pro28707Thr
NM_001256850.1:c.86119C>A (TTN)	NP_001243779.1:p.Pro28707Thr
NM_001267550.2:c.91042C>A (TTN) MANE Select	NP_001254479.2:p.Pro30348Thr
NM_003319.4:c.63847C>A (TTN)	NP_003310.4:p.Pro21283Thr
NM_133378.4:c.83338C>A (TTN)	NP_596869.4:p.Pro27780Thr
NM_133432.3:c.64222C>A (TTN)	NP_597676.3:p.Pro21408Thr
NM_133437.4:c.64423C>A (TTN)	NP_597681.4:p.Pro21475Thr
NR_038271.1:n.447-19442G>T (TTN-AS1)
NR_038272.1:n.2043+9497G>T (TTN-AS1)
XM_011511729.1:c.90139C>A (TTN)	XP_011510031.1:p.Pro30047Thr
XM_011511730.1:c.64033C>A (TTN)	XP_011510032.1:p.Pro21345Thr
XM_011511731.1:c.63892C>A (TTN)	XP_011510033.1:p.Pro21298Thr
XM_017004819.1:c.89935C>A (TTN)	XP_016860308.1:p.Pro29979Thr
XM_017004820.1:c.85333C>A (TTN)	XP_016860309.1:p.Pro28445Thr
XM_017004821.1:c.85330C>A (TTN)	XP_016860310.1:p.Pro28444Thr
XM_017004822.1:c.82372C>A (TTN)	XP_016860311.1:p.Pro27458Thr
XM_017004823.1:c.63988C>A (TTN)	XP_016860312.1:p.Pro21330Thr
XM_024453094.1:c.85483C>A (TTN)	XP_024308862.1:p.Pro28495Thr
XM_024453095.1:c.85480C>A (TTN)	XP_024308863.1:p.Pro28494Thr
XM_024453096.1:c.84913C>A (TTN)	XP_024308864.1:p.Pro28305Thr
XM_024453097.1:c.82255C>A (TTN)	XP_024308865.1:p.Pro27419Thr
XM_024453098.1:c.82174C>A (TTN)	XP_024308866.1:p.Pro27392Thr
XM_024453099.1:c.63937C>A (TTN)	XP_024308867.1:p.Pro21313Thr
XM_024453100.1:c.53791C>A (TTN)	XP_024308868.1:p.Pro17931Thr