Canonical Allele Identifier: CA349610735

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433471A>C (hg19) ; chr2:g.178568744A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568744A>C , CM000664.2:g.178568744A>C	GRCh38
NC_000002.11:g.179433471A>C , CM000664.1:g.179433471A>C	GRCh37
NC_000002.10:g.179141717A>C	NCBI36
NG_011618.3:g.267059T>G , LRG_391:g.267059T>G
NG_051363.1:g.50918A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69684T>G (TTN)	ENSP00000343764.6:p.Ile23228Met
ENST00000342175.11:c.50769T>G (TTN)	ENSP00000340554.6:p.Ile16923Met
ENST00000359218.10:c.50568T>G (TTN)	ENSP00000352154.5:p.Ile16856Met
ENST00000342175.10:c.50769T>G (TTN)	ENSP00000340554.6:p.Ile16923Met
ENST00000342992.10:c.69684T>G (TTN)	ENSP00000343764.6:p.Ile23228Met
ENST00000359218.9:c.50568T>G (TTN)	ENSP00000352154.5:p.Ile16856Met
ENST00000460472.6:c.50193T>G (TTN)	ENSP00000434586.1:p.Ile16731Met
ENST00000589042.5:c.77388T>G (TTN) MANE Select	ENSP00000467141.1:p.Ile25796Met
ENST00000591111.5:c.72465T>G (TTN)	ENSP00000465570.1:p.Ile24155Met
ENST00000615779.4:c.72465T>G (TTN)	ENSP00000483597.1:p.Ile24155Met
NM_001256850.1:c.72465T>G (TTN)	NP_001243779.1:p.Ile24155Met
NM_001267550.2:c.77388T>G (TTN) MANE Select	NP_001254479.2:p.Ile25796Met
NM_003319.4:c.50193T>G (TTN)	NP_003310.4:p.Ile16731Met
NM_133378.4:c.69684T>G (TTN)	NP_596869.4:p.Ile23228Met
NM_133432.3:c.50568T>G (TTN)	NP_597676.3:p.Ile16856Met
NM_133437.4:c.50769T>G (TTN)	NP_597681.4:p.Ile16923Met
NR_038271.1:n.447-2556A>C (TTN-AS1)
NR_038272.1:n.2044-13828A>C (TTN-AS1)
XM_011511729.1:c.76485T>G (TTN)	XP_011510031.1:p.Ile25495Met
XM_011511730.1:c.50379T>G (TTN)	XP_011510032.1:p.Ile16793Met
XM_011511731.1:c.50238T>G (TTN)	XP_011510033.1:p.Ile16746Met
XM_017004819.1:c.76281T>G (TTN)	XP_016860308.1:p.Ile25427Met
XM_017004820.1:c.71679T>G (TTN)	XP_016860309.1:p.Ile23893Met
XM_017004821.1:c.71676T>G (TTN)	XP_016860310.1:p.Ile23892Met
XM_017004822.1:c.68718T>G (TTN)	XP_016860311.1:p.Ile22906Met
XM_017004823.1:c.50334T>G (TTN)	XP_016860312.1:p.Ile16778Met
XM_024453094.1:c.71829T>G (TTN)	XP_024308862.1:p.Ile23943Met
XM_024453095.1:c.71826T>G (TTN)	XP_024308863.1:p.Ile23942Met
XM_024453096.1:c.71259T>G (TTN)	XP_024308864.1:p.Ile23753Met
XM_024453097.1:c.68601T>G (TTN)	XP_024308865.1:p.Ile22867Met
XM_024453098.1:c.68520T>G (TTN)	XP_024308866.1:p.Ile22840Met
XM_024453099.1:c.50283T>G (TTN)	XP_024308867.1:p.Ile16761Met
XM_024453100.1:c.40137T>G (TTN)	XP_024308868.1:p.Ile13379Met