Canonical Allele Identifier: CA349503303

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416462G>C (hg19) ; chr2:g.178551735G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551735G>C , CM000664.2:g.178551735G>C	GRCh38
NC_000002.11:g.179416462G>C , CM000664.1:g.179416462G>C	GRCh37
NC_000002.10:g.179124708G>C	NCBI36
NG_011618.3:g.284068C>G , LRG_391:g.284068C>G
NG_051363.1:g.33909G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83461C>G (TTN)	ENSP00000343764.6:p.Leu27821Val
ENST00000342175.11:c.64546C>G (TTN)	ENSP00000340554.6:p.Leu21516Val
ENST00000359218.10:c.64345C>G (TTN)	ENSP00000352154.5:p.Leu21449Val
ENST00000342175.10:c.64546C>G (TTN)	ENSP00000340554.6:p.Leu21516Val
ENST00000342992.10:c.83461C>G (TTN)	ENSP00000343764.6:p.Leu27821Val
ENST00000359218.9:c.64345C>G (TTN)	ENSP00000352154.5:p.Leu21449Val
ENST00000460472.6:c.63970C>G (TTN)	ENSP00000434586.1:p.Leu21324Val
ENST00000589042.5:c.91165C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu30389Val
ENST00000591111.5:c.86242C>G (TTN)	ENSP00000465570.1:p.Leu28748Val
ENST00000615779.4:c.86242C>G (TTN)	ENSP00000483597.1:p.Leu28748Val
NM_001256850.1:c.86242C>G (TTN)	NP_001243779.1:p.Leu28748Val
NM_001267550.2:c.91165C>G (TTN) MANE Select	NP_001254479.2:p.Leu30389Val
NM_003319.4:c.63970C>G (TTN)	NP_003310.4:p.Leu21324Val
NM_133378.4:c.83461C>G (TTN)	NP_596869.4:p.Leu27821Val
NM_133432.3:c.64345C>G (TTN)	NP_597676.3:p.Leu21449Val
NM_133437.4:c.64546C>G (TTN)	NP_597681.4:p.Leu21516Val
NR_038271.1:n.447-19565G>C (TTN-AS1)
NR_038272.1:n.2043+9374G>C (TTN-AS1)
XM_011511729.1:c.90262C>G (TTN)	XP_011510031.1:p.Leu30088Val
XM_011511730.1:c.64156C>G (TTN)	XP_011510032.1:p.Leu21386Val
XM_011511731.1:c.64015C>G (TTN)	XP_011510033.1:p.Leu21339Val
XM_017004819.1:c.90058C>G (TTN)	XP_016860308.1:p.Leu30020Val
XM_017004820.1:c.85456C>G (TTN)	XP_016860309.1:p.Leu28486Val
XM_017004821.1:c.85453C>G (TTN)	XP_016860310.1:p.Leu28485Val
XM_017004822.1:c.82495C>G (TTN)	XP_016860311.1:p.Leu27499Val
XM_017004823.1:c.64111C>G (TTN)	XP_016860312.1:p.Leu21371Val
XM_024453094.1:c.85606C>G (TTN)	XP_024308862.1:p.Leu28536Val
XM_024453095.1:c.85603C>G (TTN)	XP_024308863.1:p.Leu28535Val
XM_024453096.1:c.85036C>G (TTN)	XP_024308864.1:p.Leu28346Val
XM_024453097.1:c.82378C>G (TTN)	XP_024308865.1:p.Leu27460Val
XM_024453098.1:c.82297C>G (TTN)	XP_024308866.1:p.Leu27433Val
XM_024453099.1:c.64060C>G (TTN)	XP_024308867.1:p.Leu21354Val
XM_024453100.1:c.53914C>G (TTN)	XP_024308868.1:p.Leu17972Val