Canonical Allele Identifier: CA349546152

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47269C>T (TTN)	ENSP00000343764.6:p.Pro15757Ser
ENST00000342175.11:c.28354C>T (TTN)	ENSP00000340554.6:p.Pro9452Ser
ENST00000359218.10:c.28153C>T (TTN)	ENSP00000352154.5:p.Pro9385Ser
ENST00000342175.10:c.28354C>T (TTN)	ENSP00000340554.6:p.Pro9452Ser
ENST00000342992.10:c.47269C>T (TTN)	ENSP00000343764.6:p.Pro15757Ser
ENST00000359218.9:c.28153C>T (TTN)	ENSP00000352154.5:p.Pro9385Ser
ENST00000460472.6:c.27778C>T (TTN)	ENSP00000434586.1:p.Pro9260Ser
ENST00000589042.5:c.54973C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro18325Ser
ENST00000591111.5:c.50050C>T (TTN)	ENSP00000465570.1:p.Pro16684Ser
ENST00000615779.4:c.50050C>T (TTN)	ENSP00000483597.1:p.Pro16684Ser
NM_001256850.1:c.50050C>T (TTN)	NP_001243779.1:p.Pro16684Ser
NM_001267550.2:c.54973C>T (TTN) MANE Select	NP_001254479.2:p.Pro18325Ser
NM_003319.4:c.27778C>T (TTN)	NP_003310.4:p.Pro9260Ser
NM_133378.4:c.47269C>T (TTN)	NP_596869.4:p.Pro15757Ser
NM_133432.3:c.28153C>T (TTN)	NP_597676.3:p.Pro9385Ser
NM_133437.4:c.28354C>T (TTN)	NP_597681.4:p.Pro9452Ser
NR_038271.1:n.682+4748G>A (TTN-AS1)
NR_038272.1:n.3917+1762G>A (TTN-AS1)
XM_011511729.1:c.54070C>T (TTN)	XP_011510031.1:p.Pro18024Ser
XM_011511730.1:c.27964C>T (TTN)	XP_011510032.1:p.Pro9322Ser
XM_011511731.1:c.27823C>T (TTN)	XP_011510033.1:p.Pro9275Ser
XM_017004819.1:c.53866C>T (TTN)	XP_016860308.1:p.Pro17956Ser
XM_017004820.1:c.49264C>T (TTN)	XP_016860309.1:p.Pro16422Ser
XM_017004821.1:c.49261C>T (TTN)	XP_016860310.1:p.Pro16421Ser
XM_017004822.1:c.46303C>T (TTN)	XP_016860311.1:p.Pro15435Ser
XM_017004823.1:c.27919C>T (TTN)	XP_016860312.1:p.Pro9307Ser
XM_024453094.1:c.49414C>T (TTN)	XP_024308862.1:p.Pro16472Ser
XM_024453095.1:c.49411C>T (TTN)	XP_024308863.1:p.Pro16471Ser
XM_024453096.1:c.48844C>T (TTN)	XP_024308864.1:p.Pro16282Ser
XM_024453097.1:c.46186C>T (TTN)	XP_024308865.1:p.Pro15396Ser
XM_024453098.1:c.46105C>T (TTN)	XP_024308866.1:p.Pro15369Ser
XM_024453099.1:c.27868C>T (TTN)	XP_024308867.1:p.Pro9290Ser
XM_024453100.1:c.17722C>T (TTN)	XP_024308868.1:p.Pro5908Ser