Canonical Allele Identifier: CA349664579

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179440708T>G (hg19) ; chr2:g.178575981T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178575981T>G , CM000664.2:g.178575981T>G	GRCh38
NC_000002.11:g.179440708T>G , CM000664.1:g.179440708T>G	GRCh37
NC_000002.10:g.179148954T>G	NCBI36
NG_011618.3:g.259822A>C , LRG_391:g.259822A>C
NG_051363.1:g.58155T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.62447A>C (TTN)	ENSP00000343764.6:p.Asn20816Thr
ENST00000342175.11:c.43532A>C (TTN)	ENSP00000340554.6:p.Asn14511Thr
ENST00000359218.10:c.43331A>C (TTN)	ENSP00000352154.5:p.Asn14444Thr
ENST00000342175.10:c.43532A>C (TTN)	ENSP00000340554.6:p.Asn14511Thr
ENST00000342992.10:c.62447A>C (TTN)	ENSP00000343764.6:p.Asn20816Thr
ENST00000359218.9:c.43331A>C (TTN)	ENSP00000352154.5:p.Asn14444Thr
ENST00000460472.6:c.42956A>C (TTN)	ENSP00000434586.1:p.Asn14319Thr
ENST00000589042.5:c.70151A>C (TTN) MANE Select	ENSP00000467141.1:p.Asn23384Thr
ENST00000591111.5:c.65228A>C (TTN)	ENSP00000465570.1:p.Asn21743Thr
ENST00000615779.4:c.65228A>C (TTN)	ENSP00000483597.1:p.Asn21743Thr
NM_001256850.1:c.65228A>C (TTN)	NP_001243779.1:p.Asn21743Thr
NM_001267550.2:c.70151A>C (TTN) MANE Select	NP_001254479.2:p.Asn23384Thr
NM_003319.4:c.42956A>C (TTN)	NP_003310.4:p.Asn14319Thr
NM_133378.4:c.62447A>C (TTN)	NP_596869.4:p.Asn20816Thr
NM_133432.3:c.43331A>C (TTN)	NP_597676.3:p.Asn14444Thr
NM_133437.4:c.43532A>C (TTN)	NP_597681.4:p.Asn14511Thr
NR_038271.1:n.596+4532T>G (TTN-AS1)
NR_038272.1:n.2044-6591T>G (TTN-AS1)
XM_011511729.1:c.69248A>C (TTN)	XP_011510031.1:p.Asn23083Thr
XM_011511730.1:c.43142A>C (TTN)	XP_011510032.1:p.Asn14381Thr
XM_011511731.1:c.43001A>C (TTN)	XP_011510033.1:p.Asn14334Thr
XM_017004819.1:c.69044A>C (TTN)	XP_016860308.1:p.Asn23015Thr
XM_017004820.1:c.64442A>C (TTN)	XP_016860309.1:p.Asn21481Thr
XM_017004821.1:c.64439A>C (TTN)	XP_016860310.1:p.Asn21480Thr
XM_017004822.1:c.61481A>C (TTN)	XP_016860311.1:p.Asn20494Thr
XM_017004823.1:c.43097A>C (TTN)	XP_016860312.1:p.Asn14366Thr
XM_024453094.1:c.64592A>C (TTN)	XP_024308862.1:p.Asn21531Thr
XM_024453095.1:c.64589A>C (TTN)	XP_024308863.1:p.Asn21530Thr
XM_024453096.1:c.64022A>C (TTN)	XP_024308864.1:p.Asn21341Thr
XM_024453097.1:c.61364A>C (TTN)	XP_024308865.1:p.Asn20455Thr
XM_024453098.1:c.61283A>C (TTN)	XP_024308866.1:p.Asn20428Thr
XM_024453099.1:c.43046A>C (TTN)	XP_024308867.1:p.Asn14349Thr
XM_024453100.1:c.32900A>C (TTN)	XP_024308868.1:p.Asn10967Thr