Canonical Allele Identifier: CA349672557

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179442814C>T (hg19) ; chr2:g.178578087C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178578087C>T , CM000664.2:g.178578087C>T	GRCh38
NC_000002.11:g.179442814C>T , CM000664.1:g.179442814C>T	GRCh37
NC_000002.10:g.179151060C>T	NCBI36
NG_011618.3:g.257716G>A , LRG_391:g.257716G>A
NG_051363.1:g.60261C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.60724G>A (TTN)	ENSP00000343764.6:p.Glu20242Lys
ENST00000342175.11:c.41809G>A (TTN)	ENSP00000340554.6:p.Glu13937Lys
ENST00000359218.10:c.41608G>A (TTN)	ENSP00000352154.5:p.Glu13870Lys
ENST00000342175.10:c.41809G>A (TTN)	ENSP00000340554.6:p.Glu13937Lys
ENST00000342992.10:c.60724G>A (TTN)	ENSP00000343764.6:p.Glu20242Lys
ENST00000359218.9:c.41608G>A (TTN)	ENSP00000352154.5:p.Glu13870Lys
ENST00000460472.6:c.41233G>A (TTN)	ENSP00000434586.1:p.Glu13745Lys
ENST00000589042.5:c.68428G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu22810Lys
ENST00000591111.5:c.63505G>A (TTN)	ENSP00000465570.1:p.Glu21169Lys
ENST00000615779.4:c.63505G>A (TTN)	ENSP00000483597.1:p.Glu21169Lys
NM_001256850.1:c.63505G>A (TTN)	NP_001243779.1:p.Glu21169Lys
NM_001267550.2:c.68428G>A (TTN) MANE Select	NP_001254479.2:p.Glu22810Lys
NM_003319.4:c.41233G>A (TTN)	NP_003310.4:p.Glu13745Lys
NM_133378.4:c.60724G>A (TTN)	NP_596869.4:p.Glu20242Lys
NM_133432.3:c.41608G>A (TTN)	NP_597676.3:p.Glu13870Lys
NM_133437.4:c.41809G>A (TTN)	NP_597681.4:p.Glu13937Lys
NR_038271.1:n.596+6638C>T (TTN-AS1)
NR_038272.1:n.2044-4485C>T (TTN-AS1)
XM_011511729.1:c.67525G>A (TTN)	XP_011510031.1:p.Glu22509Lys
XM_011511730.1:c.41419G>A (TTN)	XP_011510032.1:p.Glu13807Lys
XM_011511731.1:c.41278G>A (TTN)	XP_011510033.1:p.Glu13760Lys
XM_017004819.1:c.67321G>A (TTN)	XP_016860308.1:p.Glu22441Lys
XM_017004820.1:c.62719G>A (TTN)	XP_016860309.1:p.Glu20907Lys
XM_017004821.1:c.62716G>A (TTN)	XP_016860310.1:p.Glu20906Lys
XM_017004822.1:c.59758G>A (TTN)	XP_016860311.1:p.Glu19920Lys
XM_017004823.1:c.41374G>A (TTN)	XP_016860312.1:p.Glu13792Lys
XM_024453094.1:c.62869G>A (TTN)	XP_024308862.1:p.Glu20957Lys
XM_024453095.1:c.62866G>A (TTN)	XP_024308863.1:p.Glu20956Lys
XM_024453096.1:c.62299G>A (TTN)	XP_024308864.1:p.Glu20767Lys
XM_024453097.1:c.59641G>A (TTN)	XP_024308865.1:p.Glu19881Lys
XM_024453098.1:c.59560G>A (TTN)	XP_024308866.1:p.Glu19854Lys
XM_024453099.1:c.41323G>A (TTN)	XP_024308867.1:p.Glu13775Lys
XM_024453100.1:c.31177G>A (TTN)	XP_024308868.1:p.Glu10393Lys