Canonical Allele Identifier: CA349672034

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178577892-G-T
• MyVariant Identifiers: chr2:g.179442619G>T (hg19) ; chr2:g.178577892G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178577892G>T , CM000664.2:g.178577892G>T	GRCh38
NC_000002.11:g.179442619G>T , CM000664.1:g.179442619G>T	GRCh37
NC_000002.10:g.179150865G>T	NCBI36
NG_011618.3:g.257911C>A , LRG_391:g.257911C>A
NG_051363.1:g.60066G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.60830C>A (TTN)	ENSP00000343764.6:p.Pro20277His
ENST00000342175.11:c.41915C>A (TTN)	ENSP00000340554.6:p.Pro13972His
ENST00000359218.10:c.41714C>A (TTN)	ENSP00000352154.5:p.Pro13905His
ENST00000342175.10:c.41915C>A (TTN)	ENSP00000340554.6:p.Pro13972His
ENST00000342992.10:c.60830C>A (TTN)	ENSP00000343764.6:p.Pro20277His
ENST00000359218.9:c.41714C>A (TTN)	ENSP00000352154.5:p.Pro13905His
ENST00000460472.6:c.41339C>A (TTN)	ENSP00000434586.1:p.Pro13780His
ENST00000589042.5:c.68534C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro22845His
ENST00000591111.5:c.63611C>A (TTN)	ENSP00000465570.1:p.Pro21204His
ENST00000615779.4:c.63611C>A (TTN)	ENSP00000483597.1:p.Pro21204His
NM_001256850.1:c.63611C>A (TTN)	NP_001243779.1:p.Pro21204His
NM_001267550.2:c.68534C>A (TTN) MANE Select	NP_001254479.2:p.Pro22845His
NM_003319.4:c.41339C>A (TTN)	NP_003310.4:p.Pro13780His
NM_133378.4:c.60830C>A (TTN)	NP_596869.4:p.Pro20277His
NM_133432.3:c.41714C>A (TTN)	NP_597676.3:p.Pro13905His
NM_133437.4:c.41915C>A (TTN)	NP_597681.4:p.Pro13972His
NR_038271.1:n.596+6443G>T (TTN-AS1)
NR_038272.1:n.2044-4680G>T (TTN-AS1)
XM_011511729.1:c.67631C>A (TTN)	XP_011510031.1:p.Pro22544His
XM_011511730.1:c.41525C>A (TTN)	XP_011510032.1:p.Pro13842His
XM_011511731.1:c.41384C>A (TTN)	XP_011510033.1:p.Pro13795His
XM_017004819.1:c.67427C>A (TTN)	XP_016860308.1:p.Pro22476His
XM_017004820.1:c.62825C>A (TTN)	XP_016860309.1:p.Pro20942His
XM_017004821.1:c.62822C>A (TTN)	XP_016860310.1:p.Pro20941His
XM_017004822.1:c.59864C>A (TTN)	XP_016860311.1:p.Pro19955His
XM_017004823.1:c.41480C>A (TTN)	XP_016860312.1:p.Pro13827His
XM_024453094.1:c.62975C>A (TTN)	XP_024308862.1:p.Pro20992His
XM_024453095.1:c.62972C>A (TTN)	XP_024308863.1:p.Pro20991His
XM_024453096.1:c.62405C>A (TTN)	XP_024308864.1:p.Pro20802His
XM_024453097.1:c.59747C>A (TTN)	XP_024308865.1:p.Pro19916His
XM_024453098.1:c.59666C>A (TTN)	XP_024308866.1:p.Pro19889His
XM_024453099.1:c.41429C>A (TTN)	XP_024308867.1:p.Pro13810His
XM_024453100.1:c.31283C>A (TTN)	XP_024308868.1:p.Pro10428His