Canonical Allele Identifier: CA349611440

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433571T>A (hg19) ; chr2:g.178568844T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568844T>A , CM000664.2:g.178568844T>A	GRCh38
NC_000002.11:g.179433571T>A , CM000664.1:g.179433571T>A	GRCh37
NC_000002.10:g.179141817T>A	NCBI36
NG_011618.3:g.266959A>T , LRG_391:g.266959A>T
NG_051363.1:g.51018T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69584A>T (TTN)	ENSP00000343764.6:p.Gln23195Leu
ENST00000342175.11:c.50669A>T (TTN)	ENSP00000340554.6:p.Gln16890Leu
ENST00000359218.10:c.50468A>T (TTN)	ENSP00000352154.5:p.Gln16823Leu
ENST00000342175.10:c.50669A>T (TTN)	ENSP00000340554.6:p.Gln16890Leu
ENST00000342992.10:c.69584A>T (TTN)	ENSP00000343764.6:p.Gln23195Leu
ENST00000359218.9:c.50468A>T (TTN)	ENSP00000352154.5:p.Gln16823Leu
ENST00000460472.6:c.50093A>T (TTN)	ENSP00000434586.1:p.Gln16698Leu
ENST00000589042.5:c.77288A>T (TTN) MANE Select	ENSP00000467141.1:p.Gln25763Leu
ENST00000591111.5:c.72365A>T (TTN)	ENSP00000465570.1:p.Gln24122Leu
ENST00000615779.4:c.72365A>T (TTN)	ENSP00000483597.1:p.Gln24122Leu
NM_001256850.1:c.72365A>T (TTN)	NP_001243779.1:p.Gln24122Leu
NM_001267550.2:c.77288A>T (TTN) MANE Select	NP_001254479.2:p.Gln25763Leu
NM_003319.4:c.50093A>T (TTN)	NP_003310.4:p.Gln16698Leu
NM_133378.4:c.69584A>T (TTN)	NP_596869.4:p.Gln23195Leu
NM_133432.3:c.50468A>T (TTN)	NP_597676.3:p.Gln16823Leu
NM_133437.4:c.50669A>T (TTN)	NP_597681.4:p.Gln16890Leu
NR_038271.1:n.447-2456T>A (TTN-AS1)
NR_038272.1:n.2044-13728T>A (TTN-AS1)
XM_011511729.1:c.76385A>T (TTN)	XP_011510031.1:p.Gln25462Leu
XM_011511730.1:c.50279A>T (TTN)	XP_011510032.1:p.Gln16760Leu
XM_011511731.1:c.50138A>T (TTN)	XP_011510033.1:p.Gln16713Leu
XM_017004819.1:c.76181A>T (TTN)	XP_016860308.1:p.Gln25394Leu
XM_017004820.1:c.71579A>T (TTN)	XP_016860309.1:p.Gln23860Leu
XM_017004821.1:c.71576A>T (TTN)	XP_016860310.1:p.Gln23859Leu
XM_017004822.1:c.68618A>T (TTN)	XP_016860311.1:p.Gln22873Leu
XM_017004823.1:c.50234A>T (TTN)	XP_016860312.1:p.Gln16745Leu
XM_024453094.1:c.71729A>T (TTN)	XP_024308862.1:p.Gln23910Leu
XM_024453095.1:c.71726A>T (TTN)	XP_024308863.1:p.Gln23909Leu
XM_024453096.1:c.71159A>T (TTN)	XP_024308864.1:p.Gln23720Leu
XM_024453097.1:c.68501A>T (TTN)	XP_024308865.1:p.Gln22834Leu
XM_024453098.1:c.68420A>T (TTN)	XP_024308866.1:p.Gln22807Leu
XM_024453099.1:c.50183A>T (TTN)	XP_024308867.1:p.Gln16728Leu
XM_024453100.1:c.40037A>T (TTN)	XP_024308868.1:p.Gln13346Leu