Canonical Allele Identifier: CA349504292

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416584G>T (hg19) ; chr2:g.178551857G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551857G>T , CM000664.2:g.178551857G>T	GRCh38
NC_000002.11:g.179416584G>T , CM000664.1:g.179416584G>T	GRCh37
NC_000002.10:g.179124830G>T	NCBI36
NG_011618.3:g.283946C>A , LRG_391:g.283946C>A
NG_051363.1:g.34031G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83339C>A (TTN)	ENSP00000343764.6:p.Pro27780Gln
ENST00000342175.11:c.64424C>A (TTN)	ENSP00000340554.6:p.Pro21475Gln
ENST00000359218.10:c.64223C>A (TTN)	ENSP00000352154.5:p.Pro21408Gln
ENST00000342175.10:c.64424C>A (TTN)	ENSP00000340554.6:p.Pro21475Gln
ENST00000342992.10:c.83339C>A (TTN)	ENSP00000343764.6:p.Pro27780Gln
ENST00000359218.9:c.64223C>A (TTN)	ENSP00000352154.5:p.Pro21408Gln
ENST00000460472.6:c.63848C>A (TTN)	ENSP00000434586.1:p.Pro21283Gln
ENST00000589042.5:c.91043C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro30348Gln
ENST00000591111.5:c.86120C>A (TTN)	ENSP00000465570.1:p.Pro28707Gln
ENST00000615779.4:c.86120C>A (TTN)	ENSP00000483597.1:p.Pro28707Gln
NM_001256850.1:c.86120C>A (TTN)	NP_001243779.1:p.Pro28707Gln
NM_001267550.2:c.91043C>A (TTN) MANE Select	NP_001254479.2:p.Pro30348Gln
NM_003319.4:c.63848C>A (TTN)	NP_003310.4:p.Pro21283Gln
NM_133378.4:c.83339C>A (TTN)	NP_596869.4:p.Pro27780Gln
NM_133432.3:c.64223C>A (TTN)	NP_597676.3:p.Pro21408Gln
NM_133437.4:c.64424C>A (TTN)	NP_597681.4:p.Pro21475Gln
NR_038271.1:n.447-19443G>T (TTN-AS1)
NR_038272.1:n.2043+9496G>T (TTN-AS1)
XM_011511729.1:c.90140C>A (TTN)	XP_011510031.1:p.Pro30047Gln
XM_011511730.1:c.64034C>A (TTN)	XP_011510032.1:p.Pro21345Gln
XM_011511731.1:c.63893C>A (TTN)	XP_011510033.1:p.Pro21298Gln
XM_017004819.1:c.89936C>A (TTN)	XP_016860308.1:p.Pro29979Gln
XM_017004820.1:c.85334C>A (TTN)	XP_016860309.1:p.Pro28445Gln
XM_017004821.1:c.85331C>A (TTN)	XP_016860310.1:p.Pro28444Gln
XM_017004822.1:c.82373C>A (TTN)	XP_016860311.1:p.Pro27458Gln
XM_017004823.1:c.63989C>A (TTN)	XP_016860312.1:p.Pro21330Gln
XM_024453094.1:c.85484C>A (TTN)	XP_024308862.1:p.Pro28495Gln
XM_024453095.1:c.85481C>A (TTN)	XP_024308863.1:p.Pro28494Gln
XM_024453096.1:c.84914C>A (TTN)	XP_024308864.1:p.Pro28305Gln
XM_024453097.1:c.82256C>A (TTN)	XP_024308865.1:p.Pro27419Gln
XM_024453098.1:c.82175C>A (TTN)	XP_024308866.1:p.Pro27392Gln
XM_024453099.1:c.63938C>A (TTN)	XP_024308867.1:p.Pro21313Gln
XM_024453100.1:c.53792C>A (TTN)	XP_024308868.1:p.Pro17931Gln