Canonical Allele Identifier: CA349411873

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM1010204 ; COSM1010206 ; COSM1010207 ; COSM1590964
• MyVariant Identifiers: chr2:g.179396966G>T (hg19) ; chr2:g.178532239G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532239G>T , CM000664.2:g.178532239G>T	GRCh38
NC_000002.11:g.179396966G>T , CM000664.1:g.179396966G>T	GRCh37
NC_000002.10:g.179105212G>T	NCBI36
NG_011618.3:g.303564C>A , LRG_391:g.303564C>A
NG_051363.1:g.14413G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96672C>A (TTN)	ENSP00000343764.6:p.Phe32224Leu
ENST00000342175.11:c.77757C>A (TTN)	ENSP00000340554.6:p.Phe25919Leu
ENST00000359218.10:c.77556C>A (TTN)	ENSP00000352154.5:p.Phe25852Leu
ENST00000342175.10:c.77757C>A (TTN)	ENSP00000340554.6:p.Phe25919Leu
ENST00000342992.10:c.96672C>A (TTN)	ENSP00000343764.6:p.Phe32224Leu
ENST00000359218.9:c.77556C>A (TTN)	ENSP00000352154.5:p.Phe25852Leu
ENST00000460472.6:c.77181C>A (TTN)	ENSP00000434586.1:p.Phe25727Leu
ENST00000589042.5:c.104376C>A (TTN) MANE Select	ENSP00000467141.1:p.Phe34792Leu
ENST00000591111.5:c.99453C>A (TTN)	ENSP00000465570.1:p.Phe33151Leu
ENST00000615779.4:c.99453C>A (TTN)	ENSP00000483597.1:p.Phe33151Leu
NM_001256850.1:c.99453C>A (TTN)	NP_001243779.1:p.Phe33151Leu
NM_001267550.2:c.104376C>A (TTN) MANE Select	NP_001254479.2:p.Phe34792Leu
NM_003319.4:c.77181C>A (TTN)	NP_003310.4:p.Phe25727Leu
NM_133378.4:c.96672C>A (TTN)	NP_596869.4:p.Phe32224Leu
NM_133432.3:c.77556C>A (TTN)	NP_597676.3:p.Phe25852Leu
NM_133437.4:c.77757C>A (TTN)	NP_597681.4:p.Phe25919Leu
NR_038271.1:n.446+8603G>T (TTN-AS1)
NR_038272.1:n.220-3493G>T (TTN-AS1)
XM_011511729.1:c.103473C>A (TTN)	XP_011510031.1:p.Phe34491Leu
XM_011511730.1:c.77367C>A (TTN)	XP_011510032.1:p.Phe25789Leu
XM_011511731.1:c.77226C>A (TTN)	XP_011510033.1:p.Phe25742Leu
XM_017004819.1:c.103269C>A (TTN)	XP_016860308.1:p.Phe34423Leu
XM_017004820.1:c.98667C>A (TTN)	XP_016860309.1:p.Phe32889Leu
XM_017004821.1:c.98664C>A (TTN)	XP_016860310.1:p.Phe32888Leu
XM_017004822.1:c.95706C>A (TTN)	XP_016860311.1:p.Phe31902Leu
XM_017004823.1:c.77322C>A (TTN)	XP_016860312.1:p.Phe25774Leu
XM_024453094.1:c.98817C>A (TTN)	XP_024308862.1:p.Phe32939Leu
XM_024453095.1:c.98814C>A (TTN)	XP_024308863.1:p.Phe32938Leu
XM_024453096.1:c.98247C>A (TTN)	XP_024308864.1:p.Phe32749Leu
XM_024453097.1:c.95589C>A (TTN)	XP_024308865.1:p.Phe31863Leu
XM_024453098.1:c.95508C>A (TTN)	XP_024308866.1:p.Phe31836Leu
XM_024453099.1:c.77271C>A (TTN)	XP_024308867.1:p.Phe25757Leu
XM_024453100.1:c.67125C>A (TTN)	XP_024308868.1:p.Phe22375Leu