Canonical Allele Identifier: CA349427101

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179401892G>A (hg19) ; chr2:g.178537165G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537165G>A , CM000664.2:g.178537165G>A	GRCh38
NC_000002.11:g.179401892G>A , CM000664.1:g.179401892G>A	GRCh37
NC_000002.10:g.179110138G>A	NCBI36
NG_011618.3:g.298638C>T , LRG_391:g.298638C>T
NG_051363.1:g.19339G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92240C>T (TTN)	ENSP00000343764.6:p.Pro30747Leu
ENST00000342175.11:c.73325C>T (TTN)	ENSP00000340554.6:p.Pro24442Leu
ENST00000359218.10:c.73124C>T (TTN)	ENSP00000352154.5:p.Pro24375Leu
ENST00000342175.10:c.73325C>T (TTN)	ENSP00000340554.6:p.Pro24442Leu
ENST00000342992.10:c.92240C>T (TTN)	ENSP00000343764.6:p.Pro30747Leu
ENST00000359218.9:c.73124C>T (TTN)	ENSP00000352154.5:p.Pro24375Leu
ENST00000460472.6:c.72749C>T (TTN)	ENSP00000434586.1:p.Pro24250Leu
ENST00000589042.5:c.99944C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro33315Leu
ENST00000591111.5:c.95021C>T (TTN)	ENSP00000465570.1:p.Pro31674Leu
ENST00000615779.4:c.95021C>T (TTN)	ENSP00000483597.1:p.Pro31674Leu
NM_001256850.1:c.95021C>T (TTN)	NP_001243779.1:p.Pro31674Leu
NM_001267550.2:c.99944C>T (TTN) MANE Select	NP_001254479.2:p.Pro33315Leu
NM_003319.4:c.72749C>T (TTN)	NP_003310.4:p.Pro24250Leu
NM_133378.4:c.92240C>T (TTN)	NP_596869.4:p.Pro30747Leu
NM_133432.3:c.73124C>T (TTN)	NP_597676.3:p.Pro24375Leu
NM_133437.4:c.73325C>T (TTN)	NP_597681.4:p.Pro24442Leu
NR_038271.1:n.446+13529G>A (TTN-AS1)
NR_038272.1:n.317-196G>A (TTN-AS1)
XM_011511729.1:c.99041C>T (TTN)	XP_011510031.1:p.Pro33014Leu
XM_011511730.1:c.72935C>T (TTN)	XP_011510032.1:p.Pro24312Leu
XM_011511731.1:c.72794C>T (TTN)	XP_011510033.1:p.Pro24265Leu
XM_017004819.1:c.98837C>T (TTN)	XP_016860308.1:p.Pro32946Leu
XM_017004820.1:c.94235C>T (TTN)	XP_016860309.1:p.Pro31412Leu
XM_017004821.1:c.94232C>T (TTN)	XP_016860310.1:p.Pro31411Leu
XM_017004822.1:c.91274C>T (TTN)	XP_016860311.1:p.Pro30425Leu
XM_017004823.1:c.72890C>T (TTN)	XP_016860312.1:p.Pro24297Leu
XM_024453094.1:c.94385C>T (TTN)	XP_024308862.1:p.Pro31462Leu
XM_024453095.1:c.94382C>T (TTN)	XP_024308863.1:p.Pro31461Leu
XM_024453096.1:c.93815C>T (TTN)	XP_024308864.1:p.Pro31272Leu
XM_024453097.1:c.91157C>T (TTN)	XP_024308865.1:p.Pro30386Leu
XM_024453098.1:c.91076C>T (TTN)	XP_024308866.1:p.Pro30359Leu
XM_024453099.1:c.72839C>T (TTN)	XP_024308867.1:p.Pro24280Leu
XM_024453100.1:c.62693C>T (TTN)	XP_024308868.1:p.Pro20898Leu