Canonical Allele Identifier: CA309079

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202321
• ClinVar RCV Id: RCV000184160 ; RCV001852382
• dbSNP Id: rs794729244
• gnomAD v4: 2-178579561-C-T
• MyVariant Identifiers: chr2:g.179444288C>T (hg19) ; chr2:g.178579561C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579561C>T , CM000664.2:g.178579561C>T	GRCh38
NC_000002.11:g.179444288C>T , CM000664.1:g.179444288C>T	GRCh37
NC_000002.10:g.179152534C>T	NCBI36
NG_011618.3:g.256242G>A , LRG_391:g.256242G>A
NG_051363.1:g.61735C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.59932G>A (TTN)	ENSP00000343764.6:p.Val19978Met
ENST00000342175.11:c.41017G>A (TTN)	ENSP00000340554.6:p.Val13673Met
ENST00000359218.10:c.40816G>A (TTN)	ENSP00000352154.5:p.Val13606Met
ENST00000342175.10:c.41017G>A (TTN)	ENSP00000340554.6:p.Val13673Met
ENST00000342992.10:c.59932G>A (TTN)	ENSP00000343764.6:p.Val19978Met
ENST00000359218.9:c.40816G>A (TTN)	ENSP00000352154.5:p.Val13606Met
ENST00000460472.6:c.40441G>A (TTN)	ENSP00000434586.1:p.Val13481Met
ENST00000589042.5:c.67636G>A (TTN) MANE Select	ENSP00000467141.1:p.Val22546Met
ENST00000591111.5:c.62713G>A (TTN)	ENSP00000465570.1:p.Val20905Met
ENST00000615779.4:c.62713G>A (TTN)	ENSP00000483597.1:p.Val20905Met
NM_001256850.1:c.62713G>A (TTN)	NP_001243779.1:p.Val20905Met
NM_001267550.2:c.67636G>A (TTN) MANE Select	NP_001254479.2:p.Val22546Met
NM_003319.4:c.40441G>A (TTN)	NP_003310.4:p.Val13481Met
NM_133378.4:c.59932G>A (TTN)	NP_596869.4:p.Val19978Met
NM_133432.3:c.40816G>A (TTN)	NP_597676.3:p.Val13606Met
NM_133437.4:c.41017G>A (TTN)	NP_597681.4:p.Val13673Met
NR_038271.1:n.596+8112C>T (TTN-AS1)
NR_038272.1:n.2044-3011C>T (TTN-AS1)
XM_011511729.1:c.66733G>A (TTN)	XP_011510031.1:p.Val22245Met
XM_011511730.1:c.40627G>A (TTN)	XP_011510032.1:p.Val13543Met
XM_011511731.1:c.40486G>A (TTN)	XP_011510033.1:p.Val13496Met
XM_017004819.1:c.66529G>A (TTN)	XP_016860308.1:p.Val22177Met
XM_017004820.1:c.61927G>A (TTN)	XP_016860309.1:p.Val20643Met
XM_017004821.1:c.61924G>A (TTN)	XP_016860310.1:p.Val20642Met
XM_017004822.1:c.58966G>A (TTN)	XP_016860311.1:p.Val19656Met
XM_017004823.1:c.40582G>A (TTN)	XP_016860312.1:p.Val13528Met
XM_024453094.1:c.62077G>A (TTN)	XP_024308862.1:p.Val20693Met
XM_024453095.1:c.62074G>A (TTN)	XP_024308863.1:p.Val20692Met
XM_024453096.1:c.61507G>A (TTN)	XP_024308864.1:p.Val20503Met
XM_024453097.1:c.58849G>A (TTN)	XP_024308865.1:p.Val19617Met
XM_024453098.1:c.58768G>A (TTN)	XP_024308866.1:p.Val19590Met
XM_024453099.1:c.40531G>A (TTN)	XP_024308867.1:p.Val13511Met
XM_024453100.1:c.30385G>A (TTN)	XP_024308868.1:p.Val10129Met