Canonical Allele Identifier: CA349470138

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178546618-T-C
• MyVariant Identifiers: chr2:g.179411345T>C (hg19) ; chr2:g.178546618T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546618T>C , CM000664.2:g.178546618T>C	GRCh38
NC_000002.11:g.179411345T>C , CM000664.1:g.179411345T>C	GRCh37
NC_000002.10:g.179119591T>C	NCBI36
NG_011618.3:g.289185A>G , LRG_391:g.289185A>G
NG_051363.1:g.28792T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87106A>G (TTN)	ENSP00000343764.6:p.Thr29036Ala
ENST00000342175.11:c.68191A>G (TTN)	ENSP00000340554.6:p.Thr22731Ala
ENST00000359218.10:c.67990A>G (TTN)	ENSP00000352154.5:p.Thr22664Ala
ENST00000342175.10:c.68191A>G (TTN)	ENSP00000340554.6:p.Thr22731Ala
ENST00000342992.10:c.87106A>G (TTN)	ENSP00000343764.6:p.Thr29036Ala
ENST00000359218.9:c.67990A>G (TTN)	ENSP00000352154.5:p.Thr22664Ala
ENST00000460472.6:c.67615A>G (TTN)	ENSP00000434586.1:p.Thr22539Ala
ENST00000589042.5:c.94810A>G (TTN) MANE Select	ENSP00000467141.1:p.Thr31604Ala
ENST00000591111.5:c.89887A>G (TTN)	ENSP00000465570.1:p.Thr29963Ala
ENST00000615779.4:c.89887A>G (TTN)	ENSP00000483597.1:p.Thr29963Ala
NM_001256850.1:c.89887A>G (TTN)	NP_001243779.1:p.Thr29963Ala
NM_001267550.2:c.94810A>G (TTN) MANE Select	NP_001254479.2:p.Thr31604Ala
NM_003319.4:c.67615A>G (TTN)	NP_003310.4:p.Thr22539Ala
NM_133378.4:c.87106A>G (TTN)	NP_596869.4:p.Thr29036Ala
NM_133432.3:c.67990A>G (TTN)	NP_597676.3:p.Thr22664Ala
NM_133437.4:c.68191A>G (TTN)	NP_597681.4:p.Thr22731Ala
NR_038271.1:n.446+22982T>C (TTN-AS1)
NR_038272.1:n.2043+4257T>C (TTN-AS1)
XM_011511729.1:c.93907A>G (TTN)	XP_011510031.1:p.Thr31303Ala
XM_011511730.1:c.67801A>G (TTN)	XP_011510032.1:p.Thr22601Ala
XM_011511731.1:c.67660A>G (TTN)	XP_011510033.1:p.Thr22554Ala
XM_017004819.1:c.93703A>G (TTN)	XP_016860308.1:p.Thr31235Ala
XM_017004820.1:c.89101A>G (TTN)	XP_016860309.1:p.Thr29701Ala
XM_017004821.1:c.89098A>G (TTN)	XP_016860310.1:p.Thr29700Ala
XM_017004822.1:c.86140A>G (TTN)	XP_016860311.1:p.Thr28714Ala
XM_017004823.1:c.67756A>G (TTN)	XP_016860312.1:p.Thr22586Ala
XM_024453094.1:c.89251A>G (TTN)	XP_024308862.1:p.Thr29751Ala
XM_024453095.1:c.89248A>G (TTN)	XP_024308863.1:p.Thr29750Ala
XM_024453096.1:c.88681A>G (TTN)	XP_024308864.1:p.Thr29561Ala
XM_024453097.1:c.86023A>G (TTN)	XP_024308865.1:p.Thr28675Ala
XM_024453098.1:c.85942A>G (TTN)	XP_024308866.1:p.Thr28648Ala
XM_024453099.1:c.67705A>G (TTN)	XP_024308867.1:p.Thr22569Ala
XM_024453100.1:c.57559A>G (TTN)	XP_024308868.1:p.Thr19187Ala