Canonical Allele Identifier: CA1986168

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs757541432
• ExAC: 2:179402354 G / A
• gnomAD v2: 2-179402354-G-A
• gnomAD v4: 2-178537627-G-A
• MyVariant Identifiers: chr2:g.179402354G>A (hg19) ; chr2:g.178537627G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537627G>A , CM000664.2:g.178537627G>A	GRCh38
NC_000002.11:g.179402354G>A , CM000664.1:g.179402354G>A	GRCh37
NC_000002.10:g.179110600G>A	NCBI36
NG_011618.3:g.298176C>T , LRG_391:g.298176C>T
NG_051363.1:g.19801G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91876C>T (TTN)	ENSP00000343764.6:p.Pro30626Ser
ENST00000342175.11:c.72961C>T (TTN)	ENSP00000340554.6:p.Pro24321Ser
ENST00000359218.10:c.72760C>T (TTN)	ENSP00000352154.5:p.Pro24254Ser
ENST00000342175.10:c.72961C>T (TTN)	ENSP00000340554.6:p.Pro24321Ser
ENST00000342992.10:c.91876C>T (TTN)	ENSP00000343764.6:p.Pro30626Ser
ENST00000359218.9:c.72760C>T (TTN)	ENSP00000352154.5:p.Pro24254Ser
ENST00000460472.6:c.72385C>T (TTN)	ENSP00000434586.1:p.Pro24129Ser
ENST00000589042.5:c.99580C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro33194Ser
ENST00000591111.5:c.94657C>T (TTN)	ENSP00000465570.1:p.Pro31553Ser
ENST00000615779.4:c.94657C>T (TTN)	ENSP00000483597.1:p.Pro31553Ser
NM_001256850.1:c.94657C>T (TTN)	NP_001243779.1:p.Pro31553Ser
NM_001267550.2:c.99580C>T (TTN) MANE Select	NP_001254479.2:p.Pro33194Ser
NM_003319.4:c.72385C>T (TTN)	NP_003310.4:p.Pro24129Ser
NM_133378.4:c.91876C>T (TTN)	NP_596869.4:p.Pro30626Ser
NM_133432.3:c.72760C>T (TTN)	NP_597676.3:p.Pro24254Ser
NM_133437.4:c.72961C>T (TTN)	NP_597681.4:p.Pro24321Ser
NR_038271.1:n.446+13991G>A (TTN-AS1)
NR_038272.1:n.583G>A (TTN-AS1)
XM_011511729.1:c.98677C>T (TTN)	XP_011510031.1:p.Pro32893Ser
XM_011511730.1:c.72571C>T (TTN)	XP_011510032.1:p.Pro24191Ser
XM_011511731.1:c.72430C>T (TTN)	XP_011510033.1:p.Pro24144Ser
XM_017004819.1:c.98473C>T (TTN)	XP_016860308.1:p.Pro32825Ser
XM_017004820.1:c.93871C>T (TTN)	XP_016860309.1:p.Pro31291Ser
XM_017004821.1:c.93868C>T (TTN)	XP_016860310.1:p.Pro31290Ser
XM_017004822.1:c.90910C>T (TTN)	XP_016860311.1:p.Pro30304Ser
XM_017004823.1:c.72526C>T (TTN)	XP_016860312.1:p.Pro24176Ser
XM_024453094.1:c.94021C>T (TTN)	XP_024308862.1:p.Pro31341Ser
XM_024453095.1:c.94018C>T (TTN)	XP_024308863.1:p.Pro31340Ser
XM_024453096.1:c.93451C>T (TTN)	XP_024308864.1:p.Pro31151Ser
XM_024453097.1:c.90793C>T (TTN)	XP_024308865.1:p.Pro30265Ser
XM_024453098.1:c.90712C>T (TTN)	XP_024308866.1:p.Pro30238Ser
XM_024453099.1:c.72475C>T (TTN)	XP_024308867.1:p.Pro24159Ser
XM_024453100.1:c.62329C>T (TTN)	XP_024308868.1:p.Pro20777Ser