Canonical Allele Identifier: CA349546158

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178602429-G-T
• MyVariant Identifiers: chr2:g.179467156G>T (hg19) ; chr2:g.178602429G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602429G>T , CM000664.2:g.178602429G>T	GRCh38
NC_000002.11:g.179467156G>T , CM000664.1:g.179467156G>T	GRCh37
NC_000002.10:g.179175401G>T	NCBI36
NG_011618.3:g.233374C>A , LRG_391:g.233374C>A
NG_051363.1:g.84603G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47269C>A (TTN)	ENSP00000343764.6:p.Pro15757Thr
ENST00000342175.11:c.28354C>A (TTN)	ENSP00000340554.6:p.Pro9452Thr
ENST00000359218.10:c.28153C>A (TTN)	ENSP00000352154.5:p.Pro9385Thr
ENST00000342175.10:c.28354C>A (TTN)	ENSP00000340554.6:p.Pro9452Thr
ENST00000342992.10:c.47269C>A (TTN)	ENSP00000343764.6:p.Pro15757Thr
ENST00000359218.9:c.28153C>A (TTN)	ENSP00000352154.5:p.Pro9385Thr
ENST00000460472.6:c.27778C>A (TTN)	ENSP00000434586.1:p.Pro9260Thr
ENST00000589042.5:c.54973C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro18325Thr
ENST00000591111.5:c.50050C>A (TTN)	ENSP00000465570.1:p.Pro16684Thr
ENST00000615779.4:c.50050C>A (TTN)	ENSP00000483597.1:p.Pro16684Thr
NM_001256850.1:c.50050C>A (TTN)	NP_001243779.1:p.Pro16684Thr
NM_001267550.2:c.54973C>A (TTN) MANE Select	NP_001254479.2:p.Pro18325Thr
NM_003319.4:c.27778C>A (TTN)	NP_003310.4:p.Pro9260Thr
NM_133378.4:c.47269C>A (TTN)	NP_596869.4:p.Pro15757Thr
NM_133432.3:c.28153C>A (TTN)	NP_597676.3:p.Pro9385Thr
NM_133437.4:c.28354C>A (TTN)	NP_597681.4:p.Pro9452Thr
NR_038271.1:n.682+4748G>T (TTN-AS1)
NR_038272.1:n.3917+1762G>T (TTN-AS1)
XM_011511729.1:c.54070C>A (TTN)	XP_011510031.1:p.Pro18024Thr
XM_011511730.1:c.27964C>A (TTN)	XP_011510032.1:p.Pro9322Thr
XM_011511731.1:c.27823C>A (TTN)	XP_011510033.1:p.Pro9275Thr
XM_017004819.1:c.53866C>A (TTN)	XP_016860308.1:p.Pro17956Thr
XM_017004820.1:c.49264C>A (TTN)	XP_016860309.1:p.Pro16422Thr
XM_017004821.1:c.49261C>A (TTN)	XP_016860310.1:p.Pro16421Thr
XM_017004822.1:c.46303C>A (TTN)	XP_016860311.1:p.Pro15435Thr
XM_017004823.1:c.27919C>A (TTN)	XP_016860312.1:p.Pro9307Thr
XM_024453094.1:c.49414C>A (TTN)	XP_024308862.1:p.Pro16472Thr
XM_024453095.1:c.49411C>A (TTN)	XP_024308863.1:p.Pro16471Thr
XM_024453096.1:c.48844C>A (TTN)	XP_024308864.1:p.Pro16282Thr
XM_024453097.1:c.46186C>A (TTN)	XP_024308865.1:p.Pro15396Thr
XM_024453098.1:c.46105C>A (TTN)	XP_024308866.1:p.Pro15369Thr
XM_024453099.1:c.27868C>A (TTN)	XP_024308867.1:p.Pro9290Thr
XM_024453100.1:c.17722C>A (TTN)	XP_024308868.1:p.Pro5908Thr