Canonical Allele Identifier: CA349451145

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408647A>C (hg19) ; chr2:g.178543920A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543920A>C , CM000664.2:g.178543920A>C	GRCh38
NC_000002.11:g.179408647A>C , CM000664.1:g.179408647A>C	GRCh37
NC_000002.10:g.179116893A>C	NCBI36
NG_011618.3:g.291883T>G , LRG_391:g.291883T>G
NG_051363.1:g.26094A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88520T>G (TTN)	ENSP00000343764.6:p.Val29507Gly
ENST00000342175.11:c.69605T>G (TTN)	ENSP00000340554.6:p.Val23202Gly
ENST00000359218.10:c.69404T>G (TTN)	ENSP00000352154.5:p.Val23135Gly
ENST00000342175.10:c.69605T>G (TTN)	ENSP00000340554.6:p.Val23202Gly
ENST00000342992.10:c.88520T>G (TTN)	ENSP00000343764.6:p.Val29507Gly
ENST00000359218.9:c.69404T>G (TTN)	ENSP00000352154.5:p.Val23135Gly
ENST00000460472.6:c.69029T>G (TTN)	ENSP00000434586.1:p.Val23010Gly
ENST00000589042.5:c.96224T>G (TTN) MANE Select	ENSP00000467141.1:p.Val32075Gly
ENST00000591111.5:c.91301T>G (TTN)	ENSP00000465570.1:p.Val30434Gly
ENST00000615779.4:c.91301T>G (TTN)	ENSP00000483597.1:p.Val30434Gly
NM_001256850.1:c.91301T>G (TTN)	NP_001243779.1:p.Val30434Gly
NM_001267550.2:c.96224T>G (TTN) MANE Select	NP_001254479.2:p.Val32075Gly
NM_003319.4:c.69029T>G (TTN)	NP_003310.4:p.Val23010Gly
NM_133378.4:c.88520T>G (TTN)	NP_596869.4:p.Val29507Gly
NM_133432.3:c.69404T>G (TTN)	NP_597676.3:p.Val23135Gly
NM_133437.4:c.69605T>G (TTN)	NP_597681.4:p.Val23202Gly
NR_038271.1:n.446+20284A>C (TTN-AS1)
NR_038272.1:n.2043+1559A>C (TTN-AS1)
XM_011511729.1:c.95321T>G (TTN)	XP_011510031.1:p.Val31774Gly
XM_011511730.1:c.69215T>G (TTN)	XP_011510032.1:p.Val23072Gly
XM_011511731.1:c.69074T>G (TTN)	XP_011510033.1:p.Val23025Gly
XM_017004819.1:c.95117T>G (TTN)	XP_016860308.1:p.Val31706Gly
XM_017004820.1:c.90515T>G (TTN)	XP_016860309.1:p.Val30172Gly
XM_017004821.1:c.90512T>G (TTN)	XP_016860310.1:p.Val30171Gly
XM_017004822.1:c.87554T>G (TTN)	XP_016860311.1:p.Val29185Gly
XM_017004823.1:c.69170T>G (TTN)	XP_016860312.1:p.Val23057Gly
XM_024453094.1:c.90665T>G (TTN)	XP_024308862.1:p.Val30222Gly
XM_024453095.1:c.90662T>G (TTN)	XP_024308863.1:p.Val30221Gly
XM_024453096.1:c.90095T>G (TTN)	XP_024308864.1:p.Val30032Gly
XM_024453097.1:c.87437T>G (TTN)	XP_024308865.1:p.Val29146Gly
XM_024453098.1:c.87356T>G (TTN)	XP_024308866.1:p.Val29119Gly
XM_024453099.1:c.69119T>G (TTN)	XP_024308867.1:p.Val23040Gly
XM_024453100.1:c.58973T>G (TTN)	XP_024308868.1:p.Val19658Gly