Canonical Allele Identifier: CA349411853

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396958T>A (hg19) ; chr2:g.178532231T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532231T>A , CM000664.2:g.178532231T>A	GRCh38
NC_000002.11:g.179396958T>A , CM000664.1:g.179396958T>A	GRCh37
NC_000002.10:g.179105204T>A	NCBI36
NG_011618.3:g.303572A>T , LRG_391:g.303572A>T
NG_051363.1:g.14405T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96680A>T (TTN)	ENSP00000343764.6:p.Lys32227Met
ENST00000342175.11:c.77765A>T (TTN)	ENSP00000340554.6:p.Lys25922Met
ENST00000359218.10:c.77564A>T (TTN)	ENSP00000352154.5:p.Lys25855Met
ENST00000342175.10:c.77765A>T (TTN)	ENSP00000340554.6:p.Lys25922Met
ENST00000342992.10:c.96680A>T (TTN)	ENSP00000343764.6:p.Lys32227Met
ENST00000359218.9:c.77564A>T (TTN)	ENSP00000352154.5:p.Lys25855Met
ENST00000460472.6:c.77189A>T (TTN)	ENSP00000434586.1:p.Lys25730Met
ENST00000589042.5:c.104384A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys34795Met
ENST00000591111.5:c.99461A>T (TTN)	ENSP00000465570.1:p.Lys33154Met
ENST00000615779.4:c.99461A>T (TTN)	ENSP00000483597.1:p.Lys33154Met
NM_001256850.1:c.99461A>T (TTN)	NP_001243779.1:p.Lys33154Met
NM_001267550.2:c.104384A>T (TTN) MANE Select	NP_001254479.2:p.Lys34795Met
NM_003319.4:c.77189A>T (TTN)	NP_003310.4:p.Lys25730Met
NM_133378.4:c.96680A>T (TTN)	NP_596869.4:p.Lys32227Met
NM_133432.3:c.77564A>T (TTN)	NP_597676.3:p.Lys25855Met
NM_133437.4:c.77765A>T (TTN)	NP_597681.4:p.Lys25922Met
NR_038271.1:n.446+8595T>A (TTN-AS1)
NR_038272.1:n.220-3501T>A (TTN-AS1)
XM_011511729.1:c.103481A>T (TTN)	XP_011510031.1:p.Lys34494Met
XM_011511730.1:c.77375A>T (TTN)	XP_011510032.1:p.Lys25792Met
XM_011511731.1:c.77234A>T (TTN)	XP_011510033.1:p.Lys25745Met
XM_017004819.1:c.103277A>T (TTN)	XP_016860308.1:p.Lys34426Met
XM_017004820.1:c.98675A>T (TTN)	XP_016860309.1:p.Lys32892Met
XM_017004821.1:c.98672A>T (TTN)	XP_016860310.1:p.Lys32891Met
XM_017004822.1:c.95714A>T (TTN)	XP_016860311.1:p.Lys31905Met
XM_017004823.1:c.77330A>T (TTN)	XP_016860312.1:p.Lys25777Met
XM_024453094.1:c.98825A>T (TTN)	XP_024308862.1:p.Lys32942Met
XM_024453095.1:c.98822A>T (TTN)	XP_024308863.1:p.Lys32941Met
XM_024453096.1:c.98255A>T (TTN)	XP_024308864.1:p.Lys32752Met
XM_024453097.1:c.95597A>T (TTN)	XP_024308865.1:p.Lys31866Met
XM_024453098.1:c.95516A>T (TTN)	XP_024308866.1:p.Lys31839Met
XM_024453099.1:c.77279A>T (TTN)	XP_024308867.1:p.Lys25760Met
XM_024453100.1:c.67133A>T (TTN)	XP_024308868.1:p.Lys22378Met