Canonical Allele Identifier: CA349405275

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM1231203 ; COSM1231204 ; COSM1231205 ; COSM1231206
• MyVariant Identifiers: chr2:g.179394782A>C (hg19) ; chr2:g.178530055A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530055A>C , CM000664.2:g.178530055A>C	GRCh38
NC_000002.11:g.179394782A>C , CM000664.1:g.179394782A>C	GRCh37
NC_000002.10:g.179103028A>C	NCBI36
NG_011618.3:g.305748T>G , LRG_391:g.305748T>G
NG_051363.1:g.12229A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98732T>G (TTN)	ENSP00000343764.6:p.Ile32911Ser
ENST00000342175.11:c.79817T>G (TTN)	ENSP00000340554.6:p.Ile26606Ser
ENST00000359218.10:c.79616T>G (TTN)	ENSP00000352154.5:p.Ile26539Ser
ENST00000342175.10:c.79817T>G (TTN)	ENSP00000340554.6:p.Ile26606Ser
ENST00000342992.10:c.98732T>G (TTN)	ENSP00000343764.6:p.Ile32911Ser
ENST00000359218.9:c.79616T>G (TTN)	ENSP00000352154.5:p.Ile26539Ser
ENST00000460472.6:c.79241T>G (TTN)	ENSP00000434586.1:p.Ile26414Ser
ENST00000589042.5:c.106436T>G (TTN) MANE Select	ENSP00000467141.1:p.Ile35479Ser
ENST00000591111.5:c.101513T>G (TTN)	ENSP00000465570.1:p.Ile33838Ser
ENST00000615779.4:c.101513T>G (TTN)	ENSP00000483597.1:p.Ile33838Ser
NM_001256850.1:c.101513T>G (TTN)	NP_001243779.1:p.Ile33838Ser
NM_001267550.2:c.106436T>G (TTN) MANE Select	NP_001254479.2:p.Ile35479Ser
NM_003319.4:c.79241T>G (TTN)	NP_003310.4:p.Ile26414Ser
NM_133378.4:c.98732T>G (TTN)	NP_596869.4:p.Ile32911Ser
NM_133432.3:c.79616T>G (TTN)	NP_597676.3:p.Ile26539Ser
NM_133437.4:c.79817T>G (TTN)	NP_597681.4:p.Ile26606Ser
NR_038271.1:n.446+6419A>C (TTN-AS1)
NR_038272.1:n.220-5677A>C (TTN-AS1)
XM_011511729.1:c.105533T>G (TTN)	XP_011510031.1:p.Ile35178Ser
XM_011511730.1:c.79427T>G (TTN)	XP_011510032.1:p.Ile26476Ser
XM_011511731.1:c.79286T>G (TTN)	XP_011510033.1:p.Ile26429Ser
XM_017004819.1:c.105329T>G (TTN)	XP_016860308.1:p.Ile35110Ser
XM_017004820.1:c.100727T>G (TTN)	XP_016860309.1:p.Ile33576Ser
XM_017004821.1:c.100724T>G (TTN)	XP_016860310.1:p.Ile33575Ser
XM_017004822.1:c.97766T>G (TTN)	XP_016860311.1:p.Ile32589Ser
XM_017004823.1:c.79382T>G (TTN)	XP_016860312.1:p.Ile26461Ser
XM_024453094.1:c.100877T>G (TTN)	XP_024308862.1:p.Ile33626Ser
XM_024453095.1:c.100874T>G (TTN)	XP_024308863.1:p.Ile33625Ser
XM_024453096.1:c.100307T>G (TTN)	XP_024308864.1:p.Ile33436Ser
XM_024453097.1:c.97649T>G (TTN)	XP_024308865.1:p.Ile32550Ser
XM_024453098.1:c.97568T>G (TTN)	XP_024308866.1:p.Ile32523Ser
XM_024453099.1:c.79331T>G (TTN)	XP_024308867.1:p.Ile26444Ser
XM_024453100.1:c.69185T>G (TTN)	XP_024308868.1:p.Ile23062Ser