Canonical Allele Identifier: CA349504130

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416572C>G (hg19) ; chr2:g.178551845C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551845C>G , CM000664.2:g.178551845C>G	GRCh38
NC_000002.11:g.179416572C>G , CM000664.1:g.179416572C>G	GRCh37
NC_000002.10:g.179124818C>G	NCBI36
NG_011618.3:g.283958G>C , LRG_391:g.283958G>C
NG_051363.1:g.34019C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83351G>C (TTN)	ENSP00000343764.6:p.Gly27784Ala
ENST00000342175.11:c.64436G>C (TTN)	ENSP00000340554.6:p.Gly21479Ala
ENST00000359218.10:c.64235G>C (TTN)	ENSP00000352154.5:p.Gly21412Ala
ENST00000342175.10:c.64436G>C (TTN)	ENSP00000340554.6:p.Gly21479Ala
ENST00000342992.10:c.83351G>C (TTN)	ENSP00000343764.6:p.Gly27784Ala
ENST00000359218.9:c.64235G>C (TTN)	ENSP00000352154.5:p.Gly21412Ala
ENST00000460472.6:c.63860G>C (TTN)	ENSP00000434586.1:p.Gly21287Ala
ENST00000589042.5:c.91055G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly30352Ala
ENST00000591111.5:c.86132G>C (TTN)	ENSP00000465570.1:p.Gly28711Ala
ENST00000615779.4:c.86132G>C (TTN)	ENSP00000483597.1:p.Gly28711Ala
NM_001256850.1:c.86132G>C (TTN)	NP_001243779.1:p.Gly28711Ala
NM_001267550.2:c.91055G>C (TTN) MANE Select	NP_001254479.2:p.Gly30352Ala
NM_003319.4:c.63860G>C (TTN)	NP_003310.4:p.Gly21287Ala
NM_133378.4:c.83351G>C (TTN)	NP_596869.4:p.Gly27784Ala
NM_133432.3:c.64235G>C (TTN)	NP_597676.3:p.Gly21412Ala
NM_133437.4:c.64436G>C (TTN)	NP_597681.4:p.Gly21479Ala
NR_038271.1:n.447-19455C>G (TTN-AS1)
NR_038272.1:n.2043+9484C>G (TTN-AS1)
XM_011511729.1:c.90152G>C (TTN)	XP_011510031.1:p.Gly30051Ala
XM_011511730.1:c.64046G>C (TTN)	XP_011510032.1:p.Gly21349Ala
XM_011511731.1:c.63905G>C (TTN)	XP_011510033.1:p.Gly21302Ala
XM_017004819.1:c.89948G>C (TTN)	XP_016860308.1:p.Gly29983Ala
XM_017004820.1:c.85346G>C (TTN)	XP_016860309.1:p.Gly28449Ala
XM_017004821.1:c.85343G>C (TTN)	XP_016860310.1:p.Gly28448Ala
XM_017004822.1:c.82385G>C (TTN)	XP_016860311.1:p.Gly27462Ala
XM_017004823.1:c.64001G>C (TTN)	XP_016860312.1:p.Gly21334Ala
XM_024453094.1:c.85496G>C (TTN)	XP_024308862.1:p.Gly28499Ala
XM_024453095.1:c.85493G>C (TTN)	XP_024308863.1:p.Gly28498Ala
XM_024453096.1:c.84926G>C (TTN)	XP_024308864.1:p.Gly28309Ala
XM_024453097.1:c.82268G>C (TTN)	XP_024308865.1:p.Gly27423Ala
XM_024453098.1:c.82187G>C (TTN)	XP_024308866.1:p.Gly27396Ala
XM_024453099.1:c.63950G>C (TTN)	XP_024308867.1:p.Gly21317Ala
XM_024453100.1:c.53804G>C (TTN)	XP_024308868.1:p.Gly17935Ala