Canonical Allele Identifier: CA349446322

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408065A>G (hg19) ; chr2:g.178543338A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543338A>G , CM000664.2:g.178543338A>G	GRCh38
NC_000002.11:g.179408065A>G , CM000664.1:g.179408065A>G	GRCh37
NC_000002.10:g.179116311A>G	NCBI36
NG_011618.3:g.292465T>C , LRG_391:g.292465T>C
NG_051363.1:g.25512A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88931T>C (TTN)	ENSP00000343764.6:p.Val29644Ala
ENST00000342175.11:c.70016T>C (TTN)	ENSP00000340554.6:p.Val23339Ala
ENST00000359218.10:c.69815T>C (TTN)	ENSP00000352154.5:p.Val23272Ala
ENST00000342175.10:c.70016T>C (TTN)	ENSP00000340554.6:p.Val23339Ala
ENST00000342992.10:c.88931T>C (TTN)	ENSP00000343764.6:p.Val29644Ala
ENST00000359218.9:c.69815T>C (TTN)	ENSP00000352154.5:p.Val23272Ala
ENST00000460472.6:c.69440T>C (TTN)	ENSP00000434586.1:p.Val23147Ala
ENST00000589042.5:c.96635T>C (TTN) MANE Select	ENSP00000467141.1:p.Val32212Ala
ENST00000591111.5:c.91712T>C (TTN)	ENSP00000465570.1:p.Val30571Ala
ENST00000615779.4:c.91712T>C (TTN)	ENSP00000483597.1:p.Val30571Ala
NM_001256850.1:c.91712T>C (TTN)	NP_001243779.1:p.Val30571Ala
NM_001267550.2:c.96635T>C (TTN) MANE Select	NP_001254479.2:p.Val32212Ala
NM_003319.4:c.69440T>C (TTN)	NP_003310.4:p.Val23147Ala
NM_133378.4:c.88931T>C (TTN)	NP_596869.4:p.Val29644Ala
NM_133432.3:c.69815T>C (TTN)	NP_597676.3:p.Val23272Ala
NM_133437.4:c.70016T>C (TTN)	NP_597681.4:p.Val23339Ala
NR_038271.1:n.446+19702A>G (TTN-AS1)
NR_038272.1:n.2043+977A>G (TTN-AS1)
XM_011511729.1:c.95732T>C (TTN)	XP_011510031.1:p.Val31911Ala
XM_011511730.1:c.69626T>C (TTN)	XP_011510032.1:p.Val23209Ala
XM_011511731.1:c.69485T>C (TTN)	XP_011510033.1:p.Val23162Ala
XM_017004819.1:c.95528T>C (TTN)	XP_016860308.1:p.Val31843Ala
XM_017004820.1:c.90926T>C (TTN)	XP_016860309.1:p.Val30309Ala
XM_017004821.1:c.90923T>C (TTN)	XP_016860310.1:p.Val30308Ala
XM_017004822.1:c.87965T>C (TTN)	XP_016860311.1:p.Val29322Ala
XM_017004823.1:c.69581T>C (TTN)	XP_016860312.1:p.Val23194Ala
XM_024453094.1:c.91076T>C (TTN)	XP_024308862.1:p.Val30359Ala
XM_024453095.1:c.91073T>C (TTN)	XP_024308863.1:p.Val30358Ala
XM_024453096.1:c.90506T>C (TTN)	XP_024308864.1:p.Val30169Ala
XM_024453097.1:c.87848T>C (TTN)	XP_024308865.1:p.Val29283Ala
XM_024453098.1:c.87767T>C (TTN)	XP_024308866.1:p.Val29256Ala
XM_024453099.1:c.69530T>C (TTN)	XP_024308867.1:p.Val23177Ala
XM_024453100.1:c.59384T>C (TTN)	XP_024308868.1:p.Val19795Ala