Canonical Allele Identifier: CA349457123

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409131A>C (hg19) ; chr2:g.178544404A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544404A>C , CM000664.2:g.178544404A>C	GRCh38
NC_000002.11:g.179409131A>C , CM000664.1:g.179409131A>C	GRCh37
NC_000002.10:g.179117377A>C	NCBI36
NG_011618.3:g.291399T>G , LRG_391:g.291399T>G
NG_051363.1:g.26578A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88121T>G (TTN)	ENSP00000343764.6:p.Val29374Gly
ENST00000342175.11:c.69206T>G (TTN)	ENSP00000340554.6:p.Val23069Gly
ENST00000359218.10:c.69005T>G (TTN)	ENSP00000352154.5:p.Val23002Gly
ENST00000342175.10:c.69206T>G (TTN)	ENSP00000340554.6:p.Val23069Gly
ENST00000342992.10:c.88121T>G (TTN)	ENSP00000343764.6:p.Val29374Gly
ENST00000359218.9:c.69005T>G (TTN)	ENSP00000352154.5:p.Val23002Gly
ENST00000460472.6:c.68630T>G (TTN)	ENSP00000434586.1:p.Val22877Gly
ENST00000589042.5:c.95825T>G (TTN) MANE Select	ENSP00000467141.1:p.Val31942Gly
ENST00000591111.5:c.90902T>G (TTN)	ENSP00000465570.1:p.Val30301Gly
ENST00000615779.4:c.90902T>G (TTN)	ENSP00000483597.1:p.Val30301Gly
NM_001256850.1:c.90902T>G (TTN)	NP_001243779.1:p.Val30301Gly
NM_001267550.2:c.95825T>G (TTN) MANE Select	NP_001254479.2:p.Val31942Gly
NM_003319.4:c.68630T>G (TTN)	NP_003310.4:p.Val22877Gly
NM_133378.4:c.88121T>G (TTN)	NP_596869.4:p.Val29374Gly
NM_133432.3:c.69005T>G (TTN)	NP_597676.3:p.Val23002Gly
NM_133437.4:c.69206T>G (TTN)	NP_597681.4:p.Val23069Gly
NR_038271.1:n.446+20768A>C (TTN-AS1)
NR_038272.1:n.2043+2043A>C (TTN-AS1)
XM_011511729.1:c.94922T>G (TTN)	XP_011510031.1:p.Val31641Gly
XM_011511730.1:c.68816T>G (TTN)	XP_011510032.1:p.Val22939Gly
XM_011511731.1:c.68675T>G (TTN)	XP_011510033.1:p.Val22892Gly
XM_017004819.1:c.94718T>G (TTN)	XP_016860308.1:p.Val31573Gly
XM_017004820.1:c.90116T>G (TTN)	XP_016860309.1:p.Val30039Gly
XM_017004821.1:c.90113T>G (TTN)	XP_016860310.1:p.Val30038Gly
XM_017004822.1:c.87155T>G (TTN)	XP_016860311.1:p.Val29052Gly
XM_017004823.1:c.68771T>G (TTN)	XP_016860312.1:p.Val22924Gly
XM_024453094.1:c.90266T>G (TTN)	XP_024308862.1:p.Val30089Gly
XM_024453095.1:c.90263T>G (TTN)	XP_024308863.1:p.Val30088Gly
XM_024453096.1:c.89696T>G (TTN)	XP_024308864.1:p.Val29899Gly
XM_024453097.1:c.87038T>G (TTN)	XP_024308865.1:p.Val29013Gly
XM_024453098.1:c.86957T>G (TTN)	XP_024308866.1:p.Val28986Gly
XM_024453099.1:c.68720T>G (TTN)	XP_024308867.1:p.Val22907Gly
XM_024453100.1:c.58574T>G (TTN)	XP_024308868.1:p.Val19525Gly