Canonical Allele Identifier: CA1995158

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs758851565
• ExAC: 2:179483413 A / G
• gnomAD v2: 2-179483413-A-G
• gnomAD v3: 2-178618686-A-G
• gnomAD v4: 2-178618686-A-G
• MyVariant Identifiers: chr2:g.179483413A>G (hg19) ; chr2:g.178618686A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618686A>G , CM000664.2:g.178618686A>G	GRCh38
NC_000002.11:g.179483413A>G , CM000664.1:g.179483413A>G	GRCh37
NC_000002.10:g.179191658A>G	NCBI36
NG_011618.3:g.217117T>C , LRG_391:g.217117T>C
NG_051363.1:g.100860A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39160T>C (TTN)	ENSP00000343764.6:p.Phe13054Leu
ENST00000342175.11:c.20245T>C (TTN)	ENSP00000340554.6:p.Phe6749Leu
ENST00000359218.10:c.20044T>C (TTN)	ENSP00000352154.5:p.Phe6682Leu
ENST00000342175.10:c.20245T>C (TTN)	ENSP00000340554.6:p.Phe6749Leu
ENST00000342992.10:c.39160T>C (TTN)	ENSP00000343764.6:p.Phe13054Leu
ENST00000359218.9:c.20044T>C (TTN)	ENSP00000352154.5:p.Phe6682Leu
ENST00000460472.6:c.19669T>C (TTN)	ENSP00000434586.1:p.Phe6557Leu
ENST00000589042.5:c.46864T>C (TTN) MANE Select	ENSP00000467141.1:p.Phe15622Leu
ENST00000591111.5:c.41941T>C (TTN)	ENSP00000465570.1:p.Phe13981Leu
ENST00000615779.4:c.41941T>C (TTN)	ENSP00000483597.1:p.Phe13981Leu
NM_001256850.1:c.41941T>C (TTN)	NP_001243779.1:p.Phe13981Leu
NM_001267550.2:c.46864T>C (TTN) MANE Select	NP_001254479.2:p.Phe15622Leu
NM_003319.4:c.19669T>C (TTN)	NP_003310.4:p.Phe6557Leu
NM_133378.4:c.39160T>C (TTN)	NP_596869.4:p.Phe13054Leu
NM_133432.3:c.20044T>C (TTN)	NP_597676.3:p.Phe6682Leu
NM_133437.4:c.20245T>C (TTN)	NP_597681.4:p.Phe6749Leu
NR_038271.1:n.1605-1067A>G (TTN-AS1)
XM_011511729.1:c.45961T>C (TTN)	XP_011510031.1:p.Phe15321Leu
XM_011511730.1:c.19855T>C (TTN)	XP_011510032.1:p.Phe6619Leu
XM_011511731.1:c.19714T>C (TTN)	XP_011510033.1:p.Phe6572Leu
XM_017004819.1:c.45757T>C (TTN)	XP_016860308.1:p.Phe15253Leu
XM_017004820.1:c.41155T>C (TTN)	XP_016860309.1:p.Phe13719Leu
XM_017004821.1:c.41152T>C (TTN)	XP_016860310.1:p.Phe13718Leu
XM_017004822.1:c.38194T>C (TTN)	XP_016860311.1:p.Phe12732Leu
XM_017004823.1:c.19810T>C (TTN)	XP_016860312.1:p.Phe6604Leu
XM_024453094.1:c.41305T>C (TTN)	XP_024308862.1:p.Phe13769Leu
XM_024453095.1:c.41302T>C (TTN)	XP_024308863.1:p.Phe13768Leu
XM_024453096.1:c.40735T>C (TTN)	XP_024308864.1:p.Phe13579Leu
XM_024453097.1:c.38077T>C (TTN)	XP_024308865.1:p.Phe12693Leu
XM_024453098.1:c.37996T>C (TTN)	XP_024308866.1:p.Phe12666Leu
XM_024453099.1:c.19759T>C (TTN)	XP_024308867.1:p.Phe6587Leu
XM_024453100.1:c.9613T>C (TTN)	XP_024308868.1:p.Phe3205Leu