Canonical Allele Identifier: CA349500038

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457935G>T (hg19) ; chr2:g.178593208G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593208G>T , CM000664.2:g.178593208G>T	GRCh38
NC_000002.11:g.179457935G>T , CM000664.1:g.179457935G>T	GRCh37
NC_000002.10:g.179166181G>T	NCBI36
NG_011618.3:g.242595C>A , LRG_391:g.242595C>A
NG_051363.1:g.75382G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51296C>A (TTN)	ENSP00000343764.6:p.Pro17099Gln
ENST00000342175.11:c.32381C>A (TTN)	ENSP00000340554.6:p.Pro10794Gln
ENST00000359218.10:c.32180C>A (TTN)	ENSP00000352154.5:p.Pro10727Gln
ENST00000342175.10:c.32381C>A (TTN)	ENSP00000340554.6:p.Pro10794Gln
ENST00000342992.10:c.51296C>A (TTN)	ENSP00000343764.6:p.Pro17099Gln
ENST00000359218.9:c.32180C>A (TTN)	ENSP00000352154.5:p.Pro10727Gln
ENST00000460472.6:c.31805C>A (TTN)	ENSP00000434586.1:p.Pro10602Gln
ENST00000589042.5:c.59000C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro19667Gln
ENST00000591111.5:c.54077C>A (TTN)	ENSP00000465570.1:p.Pro18026Gln
ENST00000615779.4:c.54077C>A (TTN)	ENSP00000483597.1:p.Pro18026Gln
NM_001256850.1:c.54077C>A (TTN)	NP_001243779.1:p.Pro18026Gln
NM_001267550.2:c.59000C>A (TTN) MANE Select	NP_001254479.2:p.Pro19667Gln
NM_003319.4:c.31805C>A (TTN)	NP_003310.4:p.Pro10602Gln
NM_133378.4:c.51296C>A (TTN)	NP_596869.4:p.Pro17099Gln
NM_133432.3:c.32180C>A (TTN)	NP_597676.3:p.Pro10727Gln
NM_133437.4:c.32381C>A (TTN)	NP_597681.4:p.Pro10794Gln
NR_038271.1:n.597-4388G>T (TTN-AS1)
NR_038272.1:n.3364+1894G>T (TTN-AS1)
XM_011511729.1:c.58097C>A (TTN)	XP_011510031.1:p.Pro19366Gln
XM_011511730.1:c.31991C>A (TTN)	XP_011510032.1:p.Pro10664Gln
XM_011511731.1:c.31850C>A (TTN)	XP_011510033.1:p.Pro10617Gln
XM_017004819.1:c.57893C>A (TTN)	XP_016860308.1:p.Pro19298Gln
XM_017004820.1:c.53291C>A (TTN)	XP_016860309.1:p.Pro17764Gln
XM_017004821.1:c.53288C>A (TTN)	XP_016860310.1:p.Pro17763Gln
XM_017004822.1:c.50330C>A (TTN)	XP_016860311.1:p.Pro16777Gln
XM_017004823.1:c.31946C>A (TTN)	XP_016860312.1:p.Pro10649Gln
XM_024453094.1:c.53441C>A (TTN)	XP_024308862.1:p.Pro17814Gln
XM_024453095.1:c.53438C>A (TTN)	XP_024308863.1:p.Pro17813Gln
XM_024453096.1:c.52871C>A (TTN)	XP_024308864.1:p.Pro17624Gln
XM_024453097.1:c.50213C>A (TTN)	XP_024308865.1:p.Pro16738Gln
XM_024453098.1:c.50132C>A (TTN)	XP_024308866.1:p.Pro16711Gln
XM_024453099.1:c.31895C>A (TTN)	XP_024308867.1:p.Pro10632Gln
XM_024453100.1:c.21749C>A (TTN)	XP_024308868.1:p.Pro7250Gln