Canonical Allele Identifier: CA349496179

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178549834-T-C
• MyVariant Identifiers: chr2:g.179414561T>C (hg19) ; chr2:g.178549834T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549834T>C , CM000664.2:g.178549834T>C	GRCh38
NC_000002.11:g.179414561T>C , CM000664.1:g.179414561T>C	GRCh37
NC_000002.10:g.179122807T>C	NCBI36
NG_011618.3:g.285969A>G , LRG_391:g.285969A>G
NG_051363.1:g.32008T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84184A>G (TTN)	ENSP00000343764.6:p.Thr28062Ala
ENST00000342175.11:c.65269A>G (TTN)	ENSP00000340554.6:p.Thr21757Ala
ENST00000359218.10:c.65068A>G (TTN)	ENSP00000352154.5:p.Thr21690Ala
ENST00000342175.10:c.65269A>G (TTN)	ENSP00000340554.6:p.Thr21757Ala
ENST00000342992.10:c.84184A>G (TTN)	ENSP00000343764.6:p.Thr28062Ala
ENST00000359218.9:c.65068A>G (TTN)	ENSP00000352154.5:p.Thr21690Ala
ENST00000460472.6:c.64693A>G (TTN)	ENSP00000434586.1:p.Thr21565Ala
ENST00000589042.5:c.91888A>G (TTN) MANE Select	ENSP00000467141.1:p.Thr30630Ala
ENST00000591111.5:c.86965A>G (TTN)	ENSP00000465570.1:p.Thr28989Ala
ENST00000615779.4:c.86965A>G (TTN)	ENSP00000483597.1:p.Thr28989Ala
NM_001256850.1:c.86965A>G (TTN)	NP_001243779.1:p.Thr28989Ala
NM_001267550.2:c.91888A>G (TTN) MANE Select	NP_001254479.2:p.Thr30630Ala
NM_003319.4:c.64693A>G (TTN)	NP_003310.4:p.Thr21565Ala
NM_133378.4:c.84184A>G (TTN)	NP_596869.4:p.Thr28062Ala
NM_133432.3:c.65068A>G (TTN)	NP_597676.3:p.Thr21690Ala
NM_133437.4:c.65269A>G (TTN)	NP_597681.4:p.Thr21757Ala
NR_038271.1:n.447-21466T>C (TTN-AS1)
NR_038272.1:n.2043+7473T>C (TTN-AS1)
XM_011511729.1:c.90985A>G (TTN)	XP_011510031.1:p.Thr30329Ala
XM_011511730.1:c.64879A>G (TTN)	XP_011510032.1:p.Thr21627Ala
XM_011511731.1:c.64738A>G (TTN)	XP_011510033.1:p.Thr21580Ala
XM_017004819.1:c.90781A>G (TTN)	XP_016860308.1:p.Thr30261Ala
XM_017004820.1:c.86179A>G (TTN)	XP_016860309.1:p.Thr28727Ala
XM_017004821.1:c.86176A>G (TTN)	XP_016860310.1:p.Thr28726Ala
XM_017004822.1:c.83218A>G (TTN)	XP_016860311.1:p.Thr27740Ala
XM_017004823.1:c.64834A>G (TTN)	XP_016860312.1:p.Thr21612Ala
XM_024453094.1:c.86329A>G (TTN)	XP_024308862.1:p.Thr28777Ala
XM_024453095.1:c.86326A>G (TTN)	XP_024308863.1:p.Thr28776Ala
XM_024453096.1:c.85759A>G (TTN)	XP_024308864.1:p.Thr28587Ala
XM_024453097.1:c.83101A>G (TTN)	XP_024308865.1:p.Thr27701Ala
XM_024453098.1:c.83020A>G (TTN)	XP_024308866.1:p.Thr27674Ala
XM_024453099.1:c.64783A>G (TTN)	XP_024308867.1:p.Thr21595Ala
XM_024453100.1:c.54637A>G (TTN)	XP_024308868.1:p.Thr18213Ala