Canonical Allele Identifier: CA349423356

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179444305A>C (hg19) ; chr2:g.178579578A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579578A>C , CM000664.2:g.178579578A>C	GRCh38
NC_000002.11:g.179444305A>C , CM000664.1:g.179444305A>C	GRCh37
NC_000002.10:g.179152551A>C	NCBI36
NG_011618.3:g.256225T>G , LRG_391:g.256225T>G
NG_051363.1:g.61752A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.59915T>G (TTN)	ENSP00000343764.6:p.Val19972Gly
ENST00000342175.11:c.41000T>G (TTN)	ENSP00000340554.6:p.Val13667Gly
ENST00000359218.10:c.40799T>G (TTN)	ENSP00000352154.5:p.Val13600Gly
ENST00000342175.10:c.41000T>G (TTN)	ENSP00000340554.6:p.Val13667Gly
ENST00000342992.10:c.59915T>G (TTN)	ENSP00000343764.6:p.Val19972Gly
ENST00000359218.9:c.40799T>G (TTN)	ENSP00000352154.5:p.Val13600Gly
ENST00000460472.6:c.40424T>G (TTN)	ENSP00000434586.1:p.Val13475Gly
ENST00000589042.5:c.67619T>G (TTN) MANE Select	ENSP00000467141.1:p.Val22540Gly
ENST00000591111.5:c.62696T>G (TTN)	ENSP00000465570.1:p.Val20899Gly
ENST00000615779.4:c.62696T>G (TTN)	ENSP00000483597.1:p.Val20899Gly
NM_001256850.1:c.62696T>G (TTN)	NP_001243779.1:p.Val20899Gly
NM_001267550.2:c.67619T>G (TTN) MANE Select	NP_001254479.2:p.Val22540Gly
NM_003319.4:c.40424T>G (TTN)	NP_003310.4:p.Val13475Gly
NM_133378.4:c.59915T>G (TTN)	NP_596869.4:p.Val19972Gly
NM_133432.3:c.40799T>G (TTN)	NP_597676.3:p.Val13600Gly
NM_133437.4:c.41000T>G (TTN)	NP_597681.4:p.Val13667Gly
NR_038271.1:n.596+8129A>C (TTN-AS1)
NR_038272.1:n.2044-2994A>C (TTN-AS1)
XM_011511729.1:c.66716T>G (TTN)	XP_011510031.1:p.Val22239Gly
XM_011511730.1:c.40610T>G (TTN)	XP_011510032.1:p.Val13537Gly
XM_011511731.1:c.40469T>G (TTN)	XP_011510033.1:p.Val13490Gly
XM_017004819.1:c.66512T>G (TTN)	XP_016860308.1:p.Val22171Gly
XM_017004820.1:c.61910T>G (TTN)	XP_016860309.1:p.Val20637Gly
XM_017004821.1:c.61907T>G (TTN)	XP_016860310.1:p.Val20636Gly
XM_017004822.1:c.58949T>G (TTN)	XP_016860311.1:p.Val19650Gly
XM_017004823.1:c.40565T>G (TTN)	XP_016860312.1:p.Val13522Gly
XM_024453094.1:c.62060T>G (TTN)	XP_024308862.1:p.Val20687Gly
XM_024453095.1:c.62057T>G (TTN)	XP_024308863.1:p.Val20686Gly
XM_024453096.1:c.61490T>G (TTN)	XP_024308864.1:p.Val20497Gly
XM_024453097.1:c.58832T>G (TTN)	XP_024308865.1:p.Val19611Gly
XM_024453098.1:c.58751T>G (TTN)	XP_024308866.1:p.Val19584Gly
XM_024453099.1:c.40514T>G (TTN)	XP_024308867.1:p.Val13505Gly
XM_024453100.1:c.30368T>G (TTN)	XP_024308868.1:p.Val10123Gly