Canonical Allele Identifier: CA1987541

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs888849578
• ExAC: 2:179414573 G / A
• gnomAD v2: 2-179414573-G-A
• gnomAD v4: 2-178549846-G-A
• COSMIC: COSM5887763 ; COSM5887764 ; COSM5887765 ; COSM5887766
• MyVariant Identifiers: chr2:g.179414573G>A (hg19) ; chr2:g.179414573_179414574delinsAC (hg19) ; chr2:g.178549846G>A (hg38) ; chr2:g.178549846_178549847delinsAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549846G>A , CM000664.2:g.178549846G>A	GRCh38
NC_000002.11:g.179414573G>A , CM000664.1:g.179414573G>A	GRCh37
NC_000002.10:g.179122819G>A	NCBI36
NG_011618.3:g.285957C>T , LRG_391:g.285957C>T
NG_051363.1:g.32020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84172C>T (TTN)	ENSP00000343764.6:p.Pro28058Ser
ENST00000342175.11:c.65257C>T (TTN)	ENSP00000340554.6:p.Pro21753Ser
ENST00000359218.10:c.65056C>T (TTN)	ENSP00000352154.5:p.Pro21686Ser
ENST00000342175.10:c.65257C>T (TTN)	ENSP00000340554.6:p.Pro21753Ser
ENST00000342992.10:c.84172C>T (TTN)	ENSP00000343764.6:p.Pro28058Ser
ENST00000359218.9:c.65056C>T (TTN)	ENSP00000352154.5:p.Pro21686Ser
ENST00000460472.6:c.64681C>T (TTN)	ENSP00000434586.1:p.Pro21561Ser
ENST00000589042.5:c.91876C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro30626Ser
ENST00000591111.5:c.86953C>T (TTN)	ENSP00000465570.1:p.Pro28985Ser
ENST00000615779.4:c.86953C>T (TTN)	ENSP00000483597.1:p.Pro28985Ser
NM_001256850.1:c.86953C>T (TTN)	NP_001243779.1:p.Pro28985Ser
NM_001267550.2:c.91876C>T (TTN) MANE Select	NP_001254479.2:p.Pro30626Ser
NM_003319.4:c.64681C>T (TTN)	NP_003310.4:p.Pro21561Ser
NM_133378.4:c.84172C>T (TTN)	NP_596869.4:p.Pro28058Ser
NM_133432.3:c.65056C>T (TTN)	NP_597676.3:p.Pro21686Ser
NM_133437.4:c.65257C>T (TTN)	NP_597681.4:p.Pro21753Ser
NR_038271.1:n.447-21454G>A (TTN-AS1)
NR_038272.1:n.2043+7485G>A (TTN-AS1)
XM_011511729.1:c.90973C>T (TTN)	XP_011510031.1:p.Pro30325Ser
XM_011511730.1:c.64867C>T (TTN)	XP_011510032.1:p.Pro21623Ser
XM_011511731.1:c.64726C>T (TTN)	XP_011510033.1:p.Pro21576Ser
XM_017004819.1:c.90769C>T (TTN)	XP_016860308.1:p.Pro30257Ser
XM_017004820.1:c.86167C>T (TTN)	XP_016860309.1:p.Pro28723Ser
XM_017004821.1:c.86164C>T (TTN)	XP_016860310.1:p.Pro28722Ser
XM_017004822.1:c.83206C>T (TTN)	XP_016860311.1:p.Pro27736Ser
XM_017004823.1:c.64822C>T (TTN)	XP_016860312.1:p.Pro21608Ser
XM_024453094.1:c.86317C>T (TTN)	XP_024308862.1:p.Pro28773Ser
XM_024453095.1:c.86314C>T (TTN)	XP_024308863.1:p.Pro28772Ser
XM_024453096.1:c.85747C>T (TTN)	XP_024308864.1:p.Pro28583Ser
XM_024453097.1:c.83089C>T (TTN)	XP_024308865.1:p.Pro27697Ser
XM_024453098.1:c.83008C>T (TTN)	XP_024308866.1:p.Pro27670Ser
XM_024453099.1:c.64771C>T (TTN)	XP_024308867.1:p.Pro21591Ser
XM_024453100.1:c.54625C>T (TTN)	XP_024308868.1:p.Pro18209Ser