Canonical Allele Identifier: CA349398187

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179391765C>A (hg19) ; chr2:g.178527038C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527038C>A , CM000664.2:g.178527038C>A	GRCh38
NC_000002.11:g.179391765C>A , CM000664.1:g.179391765C>A	GRCh37
NC_000002.10:g.179100011C>A	NCBI36
NG_011618.3:g.308765G>T , LRG_391:g.308765G>T
NG_051363.1:g.9212C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100246G>T (TTN)	ENSP00000343764.6:p.Val33416Leu
ENST00000342175.11:c.81331G>T (TTN)	ENSP00000340554.6:p.Val27111Leu
ENST00000359218.10:c.81130G>T (TTN)	ENSP00000352154.5:p.Val27044Leu
ENST00000342175.10:c.81331G>T (TTN)	ENSP00000340554.6:p.Val27111Leu
ENST00000342992.10:c.100246G>T (TTN)	ENSP00000343764.6:p.Val33416Leu
ENST00000359218.9:c.81130G>T (TTN)	ENSP00000352154.5:p.Val27044Leu
ENST00000460472.6:c.80755G>T (TTN)	ENSP00000434586.1:p.Val26919Leu
ENST00000589042.5:c.107950G>T (TTN) MANE Select	ENSP00000467141.1:p.Val35984Leu
ENST00000591111.5:c.103027G>T (TTN)	ENSP00000465570.1:p.Val34343Leu
ENST00000615779.4:c.103027G>T (TTN)	ENSP00000483597.1:p.Val34343Leu
NM_001256850.1:c.103027G>T (TTN)	NP_001243779.1:p.Val34343Leu
NM_001267550.2:c.107950G>T (TTN) MANE Select	NP_001254479.2:p.Val35984Leu
NM_003319.4:c.80755G>T (TTN)	NP_003310.4:p.Val26919Leu
NM_133378.4:c.100246G>T (TTN)	NP_596869.4:p.Val33416Leu
NM_133432.3:c.81130G>T (TTN)	NP_597676.3:p.Val27044Leu
NM_133437.4:c.81331G>T (TTN)	NP_597681.4:p.Val27111Leu
NR_038271.1:n.446+3402C>A (TTN-AS1)
NR_038272.1:n.219+3402C>A (TTN-AS1)
XM_011511729.1:c.107047G>T (TTN)	XP_011510031.1:p.Val35683Leu
XM_011511730.1:c.80941G>T (TTN)	XP_011510032.1:p.Val26981Leu
XM_011511731.1:c.80800G>T (TTN)	XP_011510033.1:p.Val26934Leu
XM_017004819.1:c.106843G>T (TTN)	XP_016860308.1:p.Val35615Leu
XM_017004820.1:c.102241G>T (TTN)	XP_016860309.1:p.Val34081Leu
XM_017004821.1:c.102238G>T (TTN)	XP_016860310.1:p.Val34080Leu
XM_017004822.1:c.99280G>T (TTN)	XP_016860311.1:p.Val33094Leu
XM_017004823.1:c.80896G>T (TTN)	XP_016860312.1:p.Val26966Leu
XM_024453094.1:c.102391G>T (TTN)	XP_024308862.1:p.Val34131Leu
XM_024453095.1:c.102388G>T (TTN)	XP_024308863.1:p.Val34130Leu
XM_024453096.1:c.101821G>T (TTN)	XP_024308864.1:p.Val33941Leu
XM_024453097.1:c.99163G>T (TTN)	XP_024308865.1:p.Val33055Leu
XM_024453098.1:c.99082G>T (TTN)	XP_024308866.1:p.Val33028Leu
XM_024453099.1:c.80845G>T (TTN)	XP_024308867.1:p.Val26949Leu
XM_024453100.1:c.70699G>T (TTN)	XP_024308868.1:p.Val23567Leu