Canonical Allele Identifier: CA349471620

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411503A>C (hg19) ; chr2:g.178546776A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546776A>C , CM000664.2:g.178546776A>C	GRCh38
NC_000002.11:g.179411503A>C , CM000664.1:g.179411503A>C	GRCh37
NC_000002.10:g.179119749A>C	NCBI36
NG_011618.3:g.289027T>G , LRG_391:g.289027T>G
NG_051363.1:g.28950A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86948T>G (TTN)	ENSP00000343764.6:p.Val28983Gly
ENST00000342175.11:c.68033T>G (TTN)	ENSP00000340554.6:p.Val22678Gly
ENST00000359218.10:c.67832T>G (TTN)	ENSP00000352154.5:p.Val22611Gly
ENST00000342175.10:c.68033T>G (TTN)	ENSP00000340554.6:p.Val22678Gly
ENST00000342992.10:c.86948T>G (TTN)	ENSP00000343764.6:p.Val28983Gly
ENST00000359218.9:c.67832T>G (TTN)	ENSP00000352154.5:p.Val22611Gly
ENST00000460472.6:c.67457T>G (TTN)	ENSP00000434586.1:p.Val22486Gly
ENST00000589042.5:c.94652T>G (TTN) MANE Select	ENSP00000467141.1:p.Val31551Gly
ENST00000591111.5:c.89729T>G (TTN)	ENSP00000465570.1:p.Val29910Gly
ENST00000615779.4:c.89729T>G (TTN)	ENSP00000483597.1:p.Val29910Gly
NM_001256850.1:c.89729T>G (TTN)	NP_001243779.1:p.Val29910Gly
NM_001267550.2:c.94652T>G (TTN) MANE Select	NP_001254479.2:p.Val31551Gly
NM_003319.4:c.67457T>G (TTN)	NP_003310.4:p.Val22486Gly
NM_133378.4:c.86948T>G (TTN)	NP_596869.4:p.Val28983Gly
NM_133432.3:c.67832T>G (TTN)	NP_597676.3:p.Val22611Gly
NM_133437.4:c.68033T>G (TTN)	NP_597681.4:p.Val22678Gly
NR_038271.1:n.446+23140A>C (TTN-AS1)
NR_038272.1:n.2043+4415A>C (TTN-AS1)
XM_011511729.1:c.93749T>G (TTN)	XP_011510031.1:p.Val31250Gly
XM_011511730.1:c.67643T>G (TTN)	XP_011510032.1:p.Val22548Gly
XM_011511731.1:c.67502T>G (TTN)	XP_011510033.1:p.Val22501Gly
XM_017004819.1:c.93545T>G (TTN)	XP_016860308.1:p.Val31182Gly
XM_017004820.1:c.88943T>G (TTN)	XP_016860309.1:p.Val29648Gly
XM_017004821.1:c.88940T>G (TTN)	XP_016860310.1:p.Val29647Gly
XM_017004822.1:c.85982T>G (TTN)	XP_016860311.1:p.Val28661Gly
XM_017004823.1:c.67598T>G (TTN)	XP_016860312.1:p.Val22533Gly
XM_024453094.1:c.89093T>G (TTN)	XP_024308862.1:p.Val29698Gly
XM_024453095.1:c.89090T>G (TTN)	XP_024308863.1:p.Val29697Gly
XM_024453096.1:c.88523T>G (TTN)	XP_024308864.1:p.Val29508Gly
XM_024453097.1:c.85865T>G (TTN)	XP_024308865.1:p.Val28622Gly
XM_024453098.1:c.85784T>G (TTN)	XP_024308866.1:p.Val28595Gly
XM_024453099.1:c.67547T>G (TTN)	XP_024308867.1:p.Val22516Gly
XM_024453100.1:c.57401T>G (TTN)	XP_024308868.1:p.Val19134Gly