Canonical Allele Identifier: CA349434794

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM461281 ; COSM461282 ; COSM461283 ; COSM1134518
• MyVariant Identifiers: chr2:g.179404687G>A (hg19) ; chr2:g.178539960G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178539960G>A , CM000664.2:g.178539960G>A	GRCh38
NC_000002.11:g.179404687G>A , CM000664.1:g.179404687G>A	GRCh37
NC_000002.10:g.179112933G>A	NCBI36
NG_011618.3:g.295843C>T , LRG_391:g.295843C>T
NG_051363.1:g.22134G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.90401C>T (TTN)	ENSP00000343764.6:p.Pro30134Leu
ENST00000342175.11:c.71486C>T (TTN)	ENSP00000340554.6:p.Pro23829Leu
ENST00000359218.10:c.71285C>T (TTN)	ENSP00000352154.5:p.Pro23762Leu
ENST00000342175.10:c.71486C>T (TTN)	ENSP00000340554.6:p.Pro23829Leu
ENST00000342992.10:c.90401C>T (TTN)	ENSP00000343764.6:p.Pro30134Leu
ENST00000359218.9:c.71285C>T (TTN)	ENSP00000352154.5:p.Pro23762Leu
ENST00000460472.6:c.70910C>T (TTN)	ENSP00000434586.1:p.Pro23637Leu
ENST00000589042.5:c.98105C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro32702Leu
ENST00000591111.5:c.93182C>T (TTN)	ENSP00000465570.1:p.Pro31061Leu
ENST00000615779.4:c.93182C>T (TTN)	ENSP00000483597.1:p.Pro31061Leu
NM_001256850.1:c.93182C>T (TTN)	NP_001243779.1:p.Pro31061Leu
NM_001267550.2:c.98105C>T (TTN) MANE Select	NP_001254479.2:p.Pro32702Leu
NM_003319.4:c.70910C>T (TTN)	NP_003310.4:p.Pro23637Leu
NM_133378.4:c.90401C>T (TTN)	NP_596869.4:p.Pro30134Leu
NM_133432.3:c.71285C>T (TTN)	NP_597676.3:p.Pro23762Leu
NM_133437.4:c.71486C>T (TTN)	NP_597681.4:p.Pro23829Leu
NR_038271.1:n.446+16324G>A (TTN-AS1)
NR_038272.1:n.1840+70G>A (TTN-AS1)
XM_011511729.1:c.97202C>T (TTN)	XP_011510031.1:p.Pro32401Leu
XM_011511730.1:c.71096C>T (TTN)	XP_011510032.1:p.Pro23699Leu
XM_011511731.1:c.70955C>T (TTN)	XP_011510033.1:p.Pro23652Leu
XM_017004819.1:c.96998C>T (TTN)	XP_016860308.1:p.Pro32333Leu
XM_017004820.1:c.92396C>T (TTN)	XP_016860309.1:p.Pro30799Leu
XM_017004821.1:c.92393C>T (TTN)	XP_016860310.1:p.Pro30798Leu
XM_017004822.1:c.89435C>T (TTN)	XP_016860311.1:p.Pro29812Leu
XM_017004823.1:c.71051C>T (TTN)	XP_016860312.1:p.Pro23684Leu
XM_024453094.1:c.92546C>T (TTN)	XP_024308862.1:p.Pro30849Leu
XM_024453095.1:c.92543C>T (TTN)	XP_024308863.1:p.Pro30848Leu
XM_024453096.1:c.91976C>T (TTN)	XP_024308864.1:p.Pro30659Leu
XM_024453097.1:c.89318C>T (TTN)	XP_024308865.1:p.Pro29773Leu
XM_024453098.1:c.89237C>T (TTN)	XP_024308866.1:p.Pro29746Leu
XM_024453099.1:c.71000C>T (TTN)	XP_024308867.1:p.Pro23667Leu
XM_024453100.1:c.60854C>T (TTN)	XP_024308868.1:p.Pro20285Leu