Canonical Allele Identifier: CA349510756

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417187T>A (hg19) ; chr2:g.178552460T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552460T>A , CM000664.2:g.178552460T>A	GRCh38
NC_000002.11:g.179417187T>A , CM000664.1:g.179417187T>A	GRCh37
NC_000002.10:g.179125433T>A	NCBI36
NG_011618.3:g.283343A>T , LRG_391:g.283343A>T
NG_051363.1:g.34634T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82736A>T (TTN)	ENSP00000343764.6:p.His27579Leu
ENST00000342175.11:c.63821A>T (TTN)	ENSP00000340554.6:p.His21274Leu
ENST00000359218.10:c.63620A>T (TTN)	ENSP00000352154.5:p.His21207Leu
ENST00000342175.10:c.63821A>T (TTN)	ENSP00000340554.6:p.His21274Leu
ENST00000342992.10:c.82736A>T (TTN)	ENSP00000343764.6:p.His27579Leu
ENST00000359218.9:c.63620A>T (TTN)	ENSP00000352154.5:p.His21207Leu
ENST00000460472.6:c.63245A>T (TTN)	ENSP00000434586.1:p.His21082Leu
ENST00000589042.5:c.90440A>T (TTN) MANE Select	ENSP00000467141.1:p.His30147Leu
ENST00000591111.5:c.85517A>T (TTN)	ENSP00000465570.1:p.His28506Leu
ENST00000615779.4:c.85517A>T (TTN)	ENSP00000483597.1:p.His28506Leu
NM_001256850.1:c.85517A>T (TTN)	NP_001243779.1:p.His28506Leu
NM_001267550.2:c.90440A>T (TTN) MANE Select	NP_001254479.2:p.His30147Leu
NM_003319.4:c.63245A>T (TTN)	NP_003310.4:p.His21082Leu
NM_133378.4:c.82736A>T (TTN)	NP_596869.4:p.His27579Leu
NM_133432.3:c.63620A>T (TTN)	NP_597676.3:p.His21207Leu
NM_133437.4:c.63821A>T (TTN)	NP_597681.4:p.His21274Leu
NR_038271.1:n.447-18840T>A (TTN-AS1)
NR_038272.1:n.2043+10099T>A (TTN-AS1)
XM_011511729.1:c.89537A>T (TTN)	XP_011510031.1:p.His29846Leu
XM_011511730.1:c.63431A>T (TTN)	XP_011510032.1:p.His21144Leu
XM_011511731.1:c.63290A>T (TTN)	XP_011510033.1:p.His21097Leu
XM_017004819.1:c.89333A>T (TTN)	XP_016860308.1:p.His29778Leu
XM_017004820.1:c.84731A>T (TTN)	XP_016860309.1:p.His28244Leu
XM_017004821.1:c.84728A>T (TTN)	XP_016860310.1:p.His28243Leu
XM_017004822.1:c.81770A>T (TTN)	XP_016860311.1:p.His27257Leu
XM_017004823.1:c.63386A>T (TTN)	XP_016860312.1:p.His21129Leu
XM_024453094.1:c.84881A>T (TTN)	XP_024308862.1:p.His28294Leu
XM_024453095.1:c.84878A>T (TTN)	XP_024308863.1:p.His28293Leu
XM_024453096.1:c.84311A>T (TTN)	XP_024308864.1:p.His28104Leu
XM_024453097.1:c.81653A>T (TTN)	XP_024308865.1:p.His27218Leu
XM_024453098.1:c.81572A>T (TTN)	XP_024308866.1:p.His27191Leu
XM_024453099.1:c.63335A>T (TTN)	XP_024308867.1:p.His21112Leu
XM_024453100.1:c.53189A>T (TTN)	XP_024308868.1:p.His17730Leu