Canonical Allele Identifier: CA349427716

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179402263G>A (hg19) ; chr2:g.178537536G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537536G>A , CM000664.2:g.178537536G>A	GRCh38
NC_000002.11:g.179402263G>A , CM000664.1:g.179402263G>A	GRCh37
NC_000002.10:g.179110509G>A	NCBI36
NG_011618.3:g.298267C>T , LRG_391:g.298267C>T
NG_051363.1:g.19710G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91967C>T (TTN)	ENSP00000343764.6:p.Pro30656Leu
ENST00000342175.11:c.73052C>T (TTN)	ENSP00000340554.6:p.Pro24351Leu
ENST00000359218.10:c.72851C>T (TTN)	ENSP00000352154.5:p.Pro24284Leu
ENST00000342175.10:c.73052C>T (TTN)	ENSP00000340554.6:p.Pro24351Leu
ENST00000342992.10:c.91967C>T (TTN)	ENSP00000343764.6:p.Pro30656Leu
ENST00000359218.9:c.72851C>T (TTN)	ENSP00000352154.5:p.Pro24284Leu
ENST00000460472.6:c.72476C>T (TTN)	ENSP00000434586.1:p.Pro24159Leu
ENST00000589042.5:c.99671C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro33224Leu
ENST00000591111.5:c.94748C>T (TTN)	ENSP00000465570.1:p.Pro31583Leu
ENST00000615779.4:c.94748C>T (TTN)	ENSP00000483597.1:p.Pro31583Leu
NM_001256850.1:c.94748C>T (TTN)	NP_001243779.1:p.Pro31583Leu
NM_001267550.2:c.99671C>T (TTN) MANE Select	NP_001254479.2:p.Pro33224Leu
NM_003319.4:c.72476C>T (TTN)	NP_003310.4:p.Pro24159Leu
NM_133378.4:c.91967C>T (TTN)	NP_596869.4:p.Pro30656Leu
NM_133432.3:c.72851C>T (TTN)	NP_597676.3:p.Pro24284Leu
NM_133437.4:c.73052C>T (TTN)	NP_597681.4:p.Pro24351Leu
NR_038271.1:n.446+13900G>A (TTN-AS1)
NR_038272.1:n.492G>A (TTN-AS1)
XM_011511729.1:c.98768C>T (TTN)	XP_011510031.1:p.Pro32923Leu
XM_011511730.1:c.72662C>T (TTN)	XP_011510032.1:p.Pro24221Leu
XM_011511731.1:c.72521C>T (TTN)	XP_011510033.1:p.Pro24174Leu
XM_017004819.1:c.98564C>T (TTN)	XP_016860308.1:p.Pro32855Leu
XM_017004820.1:c.93962C>T (TTN)	XP_016860309.1:p.Pro31321Leu
XM_017004821.1:c.93959C>T (TTN)	XP_016860310.1:p.Pro31320Leu
XM_017004822.1:c.91001C>T (TTN)	XP_016860311.1:p.Pro30334Leu
XM_017004823.1:c.72617C>T (TTN)	XP_016860312.1:p.Pro24206Leu
XM_024453094.1:c.94112C>T (TTN)	XP_024308862.1:p.Pro31371Leu
XM_024453095.1:c.94109C>T (TTN)	XP_024308863.1:p.Pro31370Leu
XM_024453096.1:c.93542C>T (TTN)	XP_024308864.1:p.Pro31181Leu
XM_024453097.1:c.90884C>T (TTN)	XP_024308865.1:p.Pro30295Leu
XM_024453098.1:c.90803C>T (TTN)	XP_024308866.1:p.Pro30268Leu
XM_024453099.1:c.72566C>T (TTN)	XP_024308867.1:p.Pro24189Leu
XM_024453100.1:c.62420C>T (TTN)	XP_024308868.1:p.Pro20807Leu