Canonical Allele Identifier: CA349417043

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs763863092
• MyVariant Identifiers: chr2:g.179398684A>G (hg19) ; chr2:g.178533957A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178533957A>G , CM000664.2:g.178533957A>G	GRCh38
NC_000002.11:g.179398684A>G , CM000664.1:g.179398684A>G	GRCh37
NC_000002.10:g.179106930A>G	NCBI36
NG_011618.3:g.301846T>C , LRG_391:g.301846T>C
NG_051363.1:g.16131A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.94954T>C (TTN)	ENSP00000343764.6:p.Ser31652Pro
ENST00000342175.11:c.76039T>C (TTN)	ENSP00000340554.6:p.Ser25347Pro
ENST00000359218.10:c.75838T>C (TTN)	ENSP00000352154.5:p.Ser25280Pro
ENST00000342175.10:c.76039T>C (TTN)	ENSP00000340554.6:p.Ser25347Pro
ENST00000342992.10:c.94954T>C (TTN)	ENSP00000343764.6:p.Ser31652Pro
ENST00000359218.9:c.75838T>C (TTN)	ENSP00000352154.5:p.Ser25280Pro
ENST00000460472.6:c.75463T>C (TTN)	ENSP00000434586.1:p.Ser25155Pro
ENST00000589042.5:c.102658T>C (TTN) MANE Select	ENSP00000467141.1:p.Ser34220Pro
ENST00000591111.5:c.97735T>C (TTN)	ENSP00000465570.1:p.Ser32579Pro
ENST00000615779.4:c.97735T>C (TTN)	ENSP00000483597.1:p.Ser32579Pro
NM_001256850.1:c.97735T>C (TTN)	NP_001243779.1:p.Ser32579Pro
NM_001267550.2:c.102658T>C (TTN) MANE Select	NP_001254479.2:p.Ser34220Pro
NM_003319.4:c.75463T>C (TTN)	NP_003310.4:p.Ser25155Pro
NM_133378.4:c.94954T>C (TTN)	NP_596869.4:p.Ser31652Pro
NM_133432.3:c.75838T>C (TTN)	NP_597676.3:p.Ser25280Pro
NM_133437.4:c.76039T>C (TTN)	NP_597681.4:p.Ser25347Pro
NR_038271.1:n.446+10321A>G (TTN-AS1)
NR_038272.1:n.220-1775A>G (TTN-AS1)
XM_011511729.1:c.101755T>C (TTN)	XP_011510031.1:p.Ser33919Pro
XM_011511730.1:c.75649T>C (TTN)	XP_011510032.1:p.Ser25217Pro
XM_011511731.1:c.75508T>C (TTN)	XP_011510033.1:p.Ser25170Pro
XM_017004819.1:c.101551T>C (TTN)	XP_016860308.1:p.Ser33851Pro
XM_017004820.1:c.96949T>C (TTN)	XP_016860309.1:p.Ser32317Pro
XM_017004821.1:c.96946T>C (TTN)	XP_016860310.1:p.Ser32316Pro
XM_017004822.1:c.93988T>C (TTN)	XP_016860311.1:p.Ser31330Pro
XM_017004823.1:c.75604T>C (TTN)	XP_016860312.1:p.Ser25202Pro
XM_024453094.1:c.97099T>C (TTN)	XP_024308862.1:p.Ser32367Pro
XM_024453095.1:c.97096T>C (TTN)	XP_024308863.1:p.Ser32366Pro
XM_024453096.1:c.96529T>C (TTN)	XP_024308864.1:p.Ser32177Pro
XM_024453097.1:c.93871T>C (TTN)	XP_024308865.1:p.Ser31291Pro
XM_024453098.1:c.93790T>C (TTN)	XP_024308866.1:p.Ser31264Pro
XM_024453099.1:c.75553T>C (TTN)	XP_024308867.1:p.Ser25185Pro
XM_024453100.1:c.65407T>C (TTN)	XP_024308868.1:p.Ser21803Pro