Canonical Allele Identifier: CA349628134

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM476382 ; COSM476383 ; COSM476384 ; COSM1136439
• MyVariant Identifiers: chr2:g.179435668G>C (hg19) ; chr2:g.178570941G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570941G>C , CM000664.2:g.178570941G>C	GRCh38
NC_000002.11:g.179435668G>C , CM000664.1:g.179435668G>C	GRCh37
NC_000002.10:g.179143914G>C	NCBI36
NG_011618.3:g.264862C>G , LRG_391:g.264862C>G
NG_051363.1:g.53115G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67487C>G (TTN)	ENSP00000343764.6:p.Thr22496Ser
ENST00000342175.11:c.48572C>G (TTN)	ENSP00000340554.6:p.Thr16191Ser
ENST00000359218.10:c.48371C>G (TTN)	ENSP00000352154.5:p.Thr16124Ser
ENST00000342175.10:c.48572C>G (TTN)	ENSP00000340554.6:p.Thr16191Ser
ENST00000342992.10:c.67487C>G (TTN)	ENSP00000343764.6:p.Thr22496Ser
ENST00000359218.9:c.48371C>G (TTN)	ENSP00000352154.5:p.Thr16124Ser
ENST00000460472.6:c.47996C>G (TTN)	ENSP00000434586.1:p.Thr15999Ser
ENST00000589042.5:c.75191C>G (TTN) MANE Select	ENSP00000467141.1:p.Thr25064Ser
ENST00000591111.5:c.70268C>G (TTN)	ENSP00000465570.1:p.Thr23423Ser
ENST00000615779.4:c.70268C>G (TTN)	ENSP00000483597.1:p.Thr23423Ser
NM_001256850.1:c.70268C>G (TTN)	NP_001243779.1:p.Thr23423Ser
NM_001267550.2:c.75191C>G (TTN) MANE Select	NP_001254479.2:p.Thr25064Ser
NM_003319.4:c.47996C>G (TTN)	NP_003310.4:p.Thr15999Ser
NM_133378.4:c.67487C>G (TTN)	NP_596869.4:p.Thr22496Ser
NM_133432.3:c.48371C>G (TTN)	NP_597676.3:p.Thr16124Ser
NM_133437.4:c.48572C>G (TTN)	NP_597681.4:p.Thr16191Ser
NR_038271.1:n.447-359G>C (TTN-AS1)
NR_038272.1:n.2044-11631G>C (TTN-AS1)
XM_011511729.1:c.74288C>G (TTN)	XP_011510031.1:p.Thr24763Ser
XM_011511730.1:c.48182C>G (TTN)	XP_011510032.1:p.Thr16061Ser
XM_011511731.1:c.48041C>G (TTN)	XP_011510033.1:p.Thr16014Ser
XM_017004819.1:c.74084C>G (TTN)	XP_016860308.1:p.Thr24695Ser
XM_017004820.1:c.69482C>G (TTN)	XP_016860309.1:p.Thr23161Ser
XM_017004821.1:c.69479C>G (TTN)	XP_016860310.1:p.Thr23160Ser
XM_017004822.1:c.66521C>G (TTN)	XP_016860311.1:p.Thr22174Ser
XM_017004823.1:c.48137C>G (TTN)	XP_016860312.1:p.Thr16046Ser
XM_024453094.1:c.69632C>G (TTN)	XP_024308862.1:p.Thr23211Ser
XM_024453095.1:c.69629C>G (TTN)	XP_024308863.1:p.Thr23210Ser
XM_024453096.1:c.69062C>G (TTN)	XP_024308864.1:p.Thr23021Ser
XM_024453097.1:c.66404C>G (TTN)	XP_024308865.1:p.Thr22135Ser
XM_024453098.1:c.66323C>G (TTN)	XP_024308866.1:p.Thr22108Ser
XM_024453099.1:c.48086C>G (TTN)	XP_024308867.1:p.Thr16029Ser
XM_024453100.1:c.37940C>G (TTN)	XP_024308868.1:p.Thr12647Ser