Canonical Allele Identifier: CA349422838

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179400519A>G (hg19) ; chr2:g.178535792A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178535792A>G , CM000664.2:g.178535792A>G	GRCh38
NC_000002.11:g.179400519A>G , CM000664.1:g.179400519A>G	GRCh37
NC_000002.10:g.179108765A>G	NCBI36
NG_011618.3:g.300011T>C , LRG_391:g.300011T>C
NG_051363.1:g.17966A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.93119T>C (TTN)	ENSP00000343764.6:p.Leu31040Pro
ENST00000342175.11:c.74204T>C (TTN)	ENSP00000340554.6:p.Leu24735Pro
ENST00000359218.10:c.74003T>C (TTN)	ENSP00000352154.5:p.Leu24668Pro
ENST00000342175.10:c.74204T>C (TTN)	ENSP00000340554.6:p.Leu24735Pro
ENST00000342992.10:c.93119T>C (TTN)	ENSP00000343764.6:p.Leu31040Pro
ENST00000359218.9:c.74003T>C (TTN)	ENSP00000352154.5:p.Leu24668Pro
ENST00000460472.6:c.73628T>C (TTN)	ENSP00000434586.1:p.Leu24543Pro
ENST00000589042.5:c.100823T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu33608Pro
ENST00000591111.5:c.95900T>C (TTN)	ENSP00000465570.1:p.Leu31967Pro
ENST00000615779.4:c.95900T>C (TTN)	ENSP00000483597.1:p.Leu31967Pro
NM_001256850.1:c.95900T>C (TTN)	NP_001243779.1:p.Leu31967Pro
NM_001267550.2:c.100823T>C (TTN) MANE Select	NP_001254479.2:p.Leu33608Pro
NM_003319.4:c.73628T>C (TTN)	NP_003310.4:p.Leu24543Pro
NM_133378.4:c.93119T>C (TTN)	NP_596869.4:p.Leu31040Pro
NM_133432.3:c.74003T>C (TTN)	NP_597676.3:p.Leu24668Pro
NM_133437.4:c.74204T>C (TTN)	NP_597681.4:p.Leu24735Pro
NR_038271.1:n.446+12156A>G (TTN-AS1)
NR_038272.1:n.280A>G (TTN-AS1)
XM_011511729.1:c.99920T>C (TTN)	XP_011510031.1:p.Leu33307Pro
XM_011511730.1:c.73814T>C (TTN)	XP_011510032.1:p.Leu24605Pro
XM_011511731.1:c.73673T>C (TTN)	XP_011510033.1:p.Leu24558Pro
XM_017004819.1:c.99716T>C (TTN)	XP_016860308.1:p.Leu33239Pro
XM_017004820.1:c.95114T>C (TTN)	XP_016860309.1:p.Leu31705Pro
XM_017004821.1:c.95111T>C (TTN)	XP_016860310.1:p.Leu31704Pro
XM_017004822.1:c.92153T>C (TTN)	XP_016860311.1:p.Leu30718Pro
XM_017004823.1:c.73769T>C (TTN)	XP_016860312.1:p.Leu24590Pro
XM_024453094.1:c.95264T>C (TTN)	XP_024308862.1:p.Leu31755Pro
XM_024453095.1:c.95261T>C (TTN)	XP_024308863.1:p.Leu31754Pro
XM_024453096.1:c.94694T>C (TTN)	XP_024308864.1:p.Leu31565Pro
XM_024453097.1:c.92036T>C (TTN)	XP_024308865.1:p.Leu30679Pro
XM_024453098.1:c.91955T>C (TTN)	XP_024308866.1:p.Leu30652Pro
XM_024453099.1:c.73718T>C (TTN)	XP_024308867.1:p.Leu24573Pro
XM_024453100.1:c.63572T>C (TTN)	XP_024308868.1:p.Leu21191Pro