Canonical Allele Identifier: CA349611444

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM5812385 ; COSM5812386 ; COSM5812387 ; COSM5812388
• MyVariant Identifiers: chr2:g.179433572G>A (hg19) ; chr2:g.178568845G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568845G>A , CM000664.2:g.178568845G>A	GRCh38
NC_000002.11:g.179433572G>A , CM000664.1:g.179433572G>A	GRCh37
NC_000002.10:g.179141818G>A	NCBI36
NG_011618.3:g.266958C>T , LRG_391:g.266958C>T
NG_051363.1:g.51019G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69583C>T (TTN)	ENSP00000343764.6:p.Gln23195Ter
ENST00000342175.11:c.50668C>T (TTN)	ENSP00000340554.6:p.Gln16890Ter
ENST00000359218.10:c.50467C>T (TTN)	ENSP00000352154.5:p.Gln16823Ter
ENST00000342175.10:c.50668C>T (TTN)	ENSP00000340554.6:p.Gln16890Ter
ENST00000342992.10:c.69583C>T (TTN)	ENSP00000343764.6:p.Gln23195Ter
ENST00000359218.9:c.50467C>T (TTN)	ENSP00000352154.5:p.Gln16823Ter
ENST00000460472.6:c.50092C>T (TTN)	ENSP00000434586.1:p.Gln16698Ter
ENST00000589042.5:c.77287C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln25763Ter
ENST00000591111.5:c.72364C>T (TTN)	ENSP00000465570.1:p.Gln24122Ter
ENST00000615779.4:c.72364C>T (TTN)	ENSP00000483597.1:p.Gln24122Ter
NM_001256850.1:c.72364C>T (TTN)	NP_001243779.1:p.Gln24122Ter
NM_001267550.2:c.77287C>T (TTN) MANE Select	NP_001254479.2:p.Gln25763Ter
NM_003319.4:c.50092C>T (TTN)	NP_003310.4:p.Gln16698Ter
NM_133378.4:c.69583C>T (TTN)	NP_596869.4:p.Gln23195Ter
NM_133432.3:c.50467C>T (TTN)	NP_597676.3:p.Gln16823Ter
NM_133437.4:c.50668C>T (TTN)	NP_597681.4:p.Gln16890Ter
NR_038271.1:n.447-2455G>A (TTN-AS1)
NR_038272.1:n.2044-13727G>A (TTN-AS1)
XM_011511729.1:c.76384C>T (TTN)	XP_011510031.1:p.Gln25462Ter
XM_011511730.1:c.50278C>T (TTN)	XP_011510032.1:p.Gln16760Ter
XM_011511731.1:c.50137C>T (TTN)	XP_011510033.1:p.Gln16713Ter
XM_017004819.1:c.76180C>T (TTN)	XP_016860308.1:p.Gln25394Ter
XM_017004820.1:c.71578C>T (TTN)	XP_016860309.1:p.Gln23860Ter
XM_017004821.1:c.71575C>T (TTN)	XP_016860310.1:p.Gln23859Ter
XM_017004822.1:c.68617C>T (TTN)	XP_016860311.1:p.Gln22873Ter
XM_017004823.1:c.50233C>T (TTN)	XP_016860312.1:p.Gln16745Ter
XM_024453094.1:c.71728C>T (TTN)	XP_024308862.1:p.Gln23910Ter
XM_024453095.1:c.71725C>T (TTN)	XP_024308863.1:p.Gln23909Ter
XM_024453096.1:c.71158C>T (TTN)	XP_024308864.1:p.Gln23720Ter
XM_024453097.1:c.68500C>T (TTN)	XP_024308865.1:p.Gln22834Ter
XM_024453098.1:c.68419C>T (TTN)	XP_024308866.1:p.Gln22807Ter
XM_024453099.1:c.50182C>T (TTN)	XP_024308867.1:p.Gln16728Ter
XM_024453100.1:c.40036C>T (TTN)	XP_024308868.1:p.Gln13346Ter