Canonical Allele Identifier: CA349545234

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1175971990
• MyVariant Identifiers: chr2:g.179467063C>T (hg19) ; chr2:g.178602336C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602336C>T , CM000664.2:g.178602336C>T	GRCh38
NC_000002.11:g.179467063C>T , CM000664.1:g.179467063C>T	GRCh37
NC_000002.10:g.179175308C>T	NCBI36
NG_011618.3:g.233467G>A , LRG_391:g.233467G>A
NG_051363.1:g.84510C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.47362G>A (TTN)	ENSP00000343764.6:p.Gly15788Ser
ENST00000342175.11:c.28447G>A (TTN)	ENSP00000340554.6:p.Gly9483Ser
ENST00000359218.10:c.28246G>A (TTN)	ENSP00000352154.5:p.Gly9416Ser
ENST00000342175.10:c.28447G>A (TTN)	ENSP00000340554.6:p.Gly9483Ser
ENST00000342992.10:c.47362G>A (TTN)	ENSP00000343764.6:p.Gly15788Ser
ENST00000359218.9:c.28246G>A (TTN)	ENSP00000352154.5:p.Gly9416Ser
ENST00000460472.6:c.27871G>A (TTN)	ENSP00000434586.1:p.Gly9291Ser
ENST00000589042.5:c.55066G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly18356Ser
ENST00000591111.5:c.50143G>A (TTN)	ENSP00000465570.1:p.Gly16715Ser
ENST00000615779.4:c.50143G>A (TTN)	ENSP00000483597.1:p.Gly16715Ser
NM_001256850.1:c.50143G>A (TTN)	NP_001243779.1:p.Gly16715Ser
NM_001267550.2:c.55066G>A (TTN) MANE Select	NP_001254479.2:p.Gly18356Ser
NM_003319.4:c.27871G>A (TTN)	NP_003310.4:p.Gly9291Ser
NM_133378.4:c.47362G>A (TTN)	NP_596869.4:p.Gly15788Ser
NM_133432.3:c.28246G>A (TTN)	NP_597676.3:p.Gly9416Ser
NM_133437.4:c.28447G>A (TTN)	NP_597681.4:p.Gly9483Ser
NR_038271.1:n.682+4655C>T (TTN-AS1)
NR_038272.1:n.3917+1669C>T (TTN-AS1)
XM_011511729.1:c.54163G>A (TTN)	XP_011510031.1:p.Gly18055Ser
XM_011511730.1:c.28057G>A (TTN)	XP_011510032.1:p.Gly9353Ser
XM_011511731.1:c.27916G>A (TTN)	XP_011510033.1:p.Gly9306Ser
XM_017004819.1:c.53959G>A (TTN)	XP_016860308.1:p.Gly17987Ser
XM_017004820.1:c.49357G>A (TTN)	XP_016860309.1:p.Gly16453Ser
XM_017004821.1:c.49354G>A (TTN)	XP_016860310.1:p.Gly16452Ser
XM_017004822.1:c.46396G>A (TTN)	XP_016860311.1:p.Gly15466Ser
XM_017004823.1:c.28012G>A (TTN)	XP_016860312.1:p.Gly9338Ser
XM_024453094.1:c.49507G>A (TTN)	XP_024308862.1:p.Gly16503Ser
XM_024453095.1:c.49504G>A (TTN)	XP_024308863.1:p.Gly16502Ser
XM_024453096.1:c.48937G>A (TTN)	XP_024308864.1:p.Gly16313Ser
XM_024453097.1:c.46279G>A (TTN)	XP_024308865.1:p.Gly15427Ser
XM_024453098.1:c.46198G>A (TTN)	XP_024308866.1:p.Gly15400Ser
XM_024453099.1:c.27961G>A (TTN)	XP_024308867.1:p.Gly9321Ser
XM_024453100.1:c.17815G>A (TTN)	XP_024308868.1:p.Gly5939Ser