Canonical Allele Identifier: CA430104070

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178551681-G-A
• MyVariant Identifiers: chr2:g.179416408G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551681G>A , CM000664.2:g.178551681G>A	GRCh38
NC_000002.11:g.179416408G>A , CM000664.1:g.179416408G>A	GRCh37
NC_000002.10:g.179124654G>A	NCBI36
NG_011618.3:g.284122C>T , LRG_391:g.284122C>T
NG_051363.1:g.33855G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83515C>T (TTN)	ENSP00000343764.6:p.Leu27839=
ENST00000342175.11:c.64600C>T (TTN)	ENSP00000340554.6:p.Leu21534=
ENST00000359218.10:c.64399C>T (TTN)	ENSP00000352154.5:p.Leu21467=
ENST00000342175.10:c.64600C>T (TTN)	ENSP00000340554.6:p.Leu21534=
ENST00000342992.10:c.83515C>T (TTN)	ENSP00000343764.6:p.Leu27839=
ENST00000359218.9:c.64399C>T (TTN)	ENSP00000352154.5:p.Leu21467=
ENST00000460472.6:c.64024C>T (TTN)	ENSP00000434586.1:p.Leu21342=
ENST00000589042.5:c.91219C>T (TTN) MANE Select	ENSP00000467141.1:p.Leu30407=
ENST00000591111.5:c.86296C>T (TTN)	ENSP00000465570.1:p.Leu28766=
ENST00000615779.4:c.86296C>T (TTN)	ENSP00000483597.1:p.Leu28766=
NM_001256850.1:c.86296C>T (TTN)	NP_001243779.1:p.Leu28766=
NM_001267550.2:c.91219C>T (TTN) MANE Select	NP_001254479.2:p.Leu30407=
NM_003319.4:c.64024C>T (TTN)	NP_003310.4:p.Leu21342=
NM_133378.4:c.83515C>T (TTN)	NP_596869.4:p.Leu27839=
NM_133432.3:c.64399C>T (TTN)	NP_597676.3:p.Leu21467=
NM_133437.4:c.64600C>T (TTN)	NP_597681.4:p.Leu21534=
NR_038271.1:n.447-19619G>A (TTN-AS1)
NR_038272.1:n.2043+9320G>A (TTN-AS1)
XM_011511729.1:c.90316C>T (TTN)	XP_011510031.1:p.Leu30106=
XM_011511730.1:c.64210C>T (TTN)	XP_011510032.1:p.Leu21404=
XM_011511731.1:c.64069C>T (TTN)	XP_011510033.1:p.Leu21357=
XM_017004819.1:c.90112C>T (TTN)	XP_016860308.1:p.Leu30038=
XM_017004820.1:c.85510C>T (TTN)	XP_016860309.1:p.Leu28504=
XM_017004821.1:c.85507C>T (TTN)	XP_016860310.1:p.Leu28503=
XM_017004822.1:c.82549C>T (TTN)	XP_016860311.1:p.Leu27517=
XM_017004823.1:c.64165C>T (TTN)	XP_016860312.1:p.Leu21389=
XM_024453094.1:c.85660C>T (TTN)	XP_024308862.1:p.Leu28554=
XM_024453095.1:c.85657C>T (TTN)	XP_024308863.1:p.Leu28553=
XM_024453096.1:c.85090C>T (TTN)	XP_024308864.1:p.Leu28364=
XM_024453097.1:c.82432C>T (TTN)	XP_024308865.1:p.Leu27478=
XM_024453098.1:c.82351C>T (TTN)	XP_024308866.1:p.Leu27451=
XM_024453099.1:c.64114C>T (TTN)	XP_024308867.1:p.Leu21372=
XM_024453100.1:c.53968C>T (TTN)	XP_024308868.1:p.Leu17990=