Canonical Allele Identifier: CA349490015

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179413484C>A (hg19) ; chr2:g.178548757C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178548757C>A , CM000664.2:g.178548757C>A	GRCh38
NC_000002.11:g.179413484C>A , CM000664.1:g.179413484C>A	GRCh37
NC_000002.10:g.179121730C>A	NCBI36
NG_011618.3:g.287046G>T , LRG_391:g.287046G>T
NG_051363.1:g.30931C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.85165G>T (TTN)	ENSP00000343764.6:p.Ala28389Ser
ENST00000342175.11:c.66250G>T (TTN)	ENSP00000340554.6:p.Ala22084Ser
ENST00000359218.10:c.66049G>T (TTN)	ENSP00000352154.5:p.Ala22017Ser
ENST00000342175.10:c.66250G>T (TTN)	ENSP00000340554.6:p.Ala22084Ser
ENST00000342992.10:c.85165G>T (TTN)	ENSP00000343764.6:p.Ala28389Ser
ENST00000359218.9:c.66049G>T (TTN)	ENSP00000352154.5:p.Ala22017Ser
ENST00000460472.6:c.65674G>T (TTN)	ENSP00000434586.1:p.Ala21892Ser
ENST00000589042.5:c.92869G>T (TTN) MANE Select	ENSP00000467141.1:p.Ala30957Ser
ENST00000591111.5:c.87946G>T (TTN)	ENSP00000465570.1:p.Ala29316Ser
ENST00000615779.4:c.87946G>T (TTN)	ENSP00000483597.1:p.Ala29316Ser
NM_001256850.1:c.87946G>T (TTN)	NP_001243779.1:p.Ala29316Ser
NM_001267550.2:c.92869G>T (TTN) MANE Select	NP_001254479.2:p.Ala30957Ser
NM_003319.4:c.65674G>T (TTN)	NP_003310.4:p.Ala21892Ser
NM_133378.4:c.85165G>T (TTN)	NP_596869.4:p.Ala28389Ser
NM_133432.3:c.66049G>T (TTN)	NP_597676.3:p.Ala22017Ser
NM_133437.4:c.66250G>T (TTN)	NP_597681.4:p.Ala22084Ser
NR_038271.1:n.447-22543C>A (TTN-AS1)
NR_038272.1:n.2043+6396C>A (TTN-AS1)
XM_011511729.1:c.91966G>T (TTN)	XP_011510031.1:p.Ala30656Ser
XM_011511730.1:c.65860G>T (TTN)	XP_011510032.1:p.Ala21954Ser
XM_011511731.1:c.65719G>T (TTN)	XP_011510033.1:p.Ala21907Ser
XM_017004819.1:c.91762G>T (TTN)	XP_016860308.1:p.Ala30588Ser
XM_017004820.1:c.87160G>T (TTN)	XP_016860309.1:p.Ala29054Ser
XM_017004821.1:c.87157G>T (TTN)	XP_016860310.1:p.Ala29053Ser
XM_017004822.1:c.84199G>T (TTN)	XP_016860311.1:p.Ala28067Ser
XM_017004823.1:c.65815G>T (TTN)	XP_016860312.1:p.Ala21939Ser
XM_024453094.1:c.87310G>T (TTN)	XP_024308862.1:p.Ala29104Ser
XM_024453095.1:c.87307G>T (TTN)	XP_024308863.1:p.Ala29103Ser
XM_024453096.1:c.86740G>T (TTN)	XP_024308864.1:p.Ala28914Ser
XM_024453097.1:c.84082G>T (TTN)	XP_024308865.1:p.Ala28028Ser
XM_024453098.1:c.84001G>T (TTN)	XP_024308866.1:p.Ala28001Ser
XM_024453099.1:c.65764G>T (TTN)	XP_024308867.1:p.Ala21922Ser
XM_024453100.1:c.55618G>T (TTN)	XP_024308868.1:p.Ala18540Ser