Canonical Allele Identifier: CA349621907

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179483416A>G (hg19) ; chr2:g.178618689A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618689A>G , CM000664.2:g.178618689A>G	GRCh38
NC_000002.11:g.179483416A>G , CM000664.1:g.179483416A>G	GRCh37
NC_000002.10:g.179191661A>G	NCBI36
NG_011618.3:g.217114T>C , LRG_391:g.217114T>C
NG_051363.1:g.100863A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39157T>C (TTN)	ENSP00000343764.6:p.Ser13053Pro
ENST00000342175.11:c.20242T>C (TTN)	ENSP00000340554.6:p.Ser6748Pro
ENST00000359218.10:c.20041T>C (TTN)	ENSP00000352154.5:p.Ser6681Pro
ENST00000342175.10:c.20242T>C (TTN)	ENSP00000340554.6:p.Ser6748Pro
ENST00000342992.10:c.39157T>C (TTN)	ENSP00000343764.6:p.Ser13053Pro
ENST00000359218.9:c.20041T>C (TTN)	ENSP00000352154.5:p.Ser6681Pro
ENST00000460472.6:c.19666T>C (TTN)	ENSP00000434586.1:p.Ser6556Pro
ENST00000589042.5:c.46861T>C (TTN) MANE Select	ENSP00000467141.1:p.Ser15621Pro
ENST00000591111.5:c.41938T>C (TTN)	ENSP00000465570.1:p.Ser13980Pro
ENST00000615779.4:c.41938T>C (TTN)	ENSP00000483597.1:p.Ser13980Pro
NM_001256850.1:c.41938T>C (TTN)	NP_001243779.1:p.Ser13980Pro
NM_001267550.2:c.46861T>C (TTN) MANE Select	NP_001254479.2:p.Ser15621Pro
NM_003319.4:c.19666T>C (TTN)	NP_003310.4:p.Ser6556Pro
NM_133378.4:c.39157T>C (TTN)	NP_596869.4:p.Ser13053Pro
NM_133432.3:c.20041T>C (TTN)	NP_597676.3:p.Ser6681Pro
NM_133437.4:c.20242T>C (TTN)	NP_597681.4:p.Ser6748Pro
NR_038271.1:n.1605-1064A>G (TTN-AS1)
XM_011511729.1:c.45958T>C (TTN)	XP_011510031.1:p.Ser15320Pro
XM_011511730.1:c.19852T>C (TTN)	XP_011510032.1:p.Ser6618Pro
XM_011511731.1:c.19711T>C (TTN)	XP_011510033.1:p.Ser6571Pro
XM_017004819.1:c.45754T>C (TTN)	XP_016860308.1:p.Ser15252Pro
XM_017004820.1:c.41152T>C (TTN)	XP_016860309.1:p.Ser13718Pro
XM_017004821.1:c.41149T>C (TTN)	XP_016860310.1:p.Ser13717Pro
XM_017004822.1:c.38191T>C (TTN)	XP_016860311.1:p.Ser12731Pro
XM_017004823.1:c.19807T>C (TTN)	XP_016860312.1:p.Ser6603Pro
XM_024453094.1:c.41302T>C (TTN)	XP_024308862.1:p.Ser13768Pro
XM_024453095.1:c.41299T>C (TTN)	XP_024308863.1:p.Ser13767Pro
XM_024453096.1:c.40732T>C (TTN)	XP_024308864.1:p.Ser13578Pro
XM_024453097.1:c.38074T>C (TTN)	XP_024308865.1:p.Ser12692Pro
XM_024453098.1:c.37993T>C (TTN)	XP_024308866.1:p.Ser12665Pro
XM_024453099.1:c.19756T>C (TTN)	XP_024308867.1:p.Ser6586Pro
XM_024453100.1:c.9610T>C (TTN)	XP_024308868.1:p.Ser3204Pro