Canonical Allele Identifier: CA349503381

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416471C>A (hg19) ; chr2:g.178551744C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551744C>A , CM000664.2:g.178551744C>A	GRCh38
NC_000002.11:g.179416471C>A , CM000664.1:g.179416471C>A	GRCh37
NC_000002.10:g.179124717C>A	NCBI36
NG_011618.3:g.284059G>T , LRG_391:g.284059G>T
NG_051363.1:g.33918C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83452G>T (TTN)	ENSP00000343764.6:p.Ala27818Ser
ENST00000342175.11:c.64537G>T (TTN)	ENSP00000340554.6:p.Ala21513Ser
ENST00000359218.10:c.64336G>T (TTN)	ENSP00000352154.5:p.Ala21446Ser
ENST00000342175.10:c.64537G>T (TTN)	ENSP00000340554.6:p.Ala21513Ser
ENST00000342992.10:c.83452G>T (TTN)	ENSP00000343764.6:p.Ala27818Ser
ENST00000359218.9:c.64336G>T (TTN)	ENSP00000352154.5:p.Ala21446Ser
ENST00000460472.6:c.63961G>T (TTN)	ENSP00000434586.1:p.Ala21321Ser
ENST00000589042.5:c.91156G>T (TTN) MANE Select	ENSP00000467141.1:p.Ala30386Ser
ENST00000591111.5:c.86233G>T (TTN)	ENSP00000465570.1:p.Ala28745Ser
ENST00000615779.4:c.86233G>T (TTN)	ENSP00000483597.1:p.Ala28745Ser
NM_001256850.1:c.86233G>T (TTN)	NP_001243779.1:p.Ala28745Ser
NM_001267550.2:c.91156G>T (TTN) MANE Select	NP_001254479.2:p.Ala30386Ser
NM_003319.4:c.63961G>T (TTN)	NP_003310.4:p.Ala21321Ser
NM_133378.4:c.83452G>T (TTN)	NP_596869.4:p.Ala27818Ser
NM_133432.3:c.64336G>T (TTN)	NP_597676.3:p.Ala21446Ser
NM_133437.4:c.64537G>T (TTN)	NP_597681.4:p.Ala21513Ser
NR_038271.1:n.447-19556C>A (TTN-AS1)
NR_038272.1:n.2043+9383C>A (TTN-AS1)
XM_011511729.1:c.90253G>T (TTN)	XP_011510031.1:p.Ala30085Ser
XM_011511730.1:c.64147G>T (TTN)	XP_011510032.1:p.Ala21383Ser
XM_011511731.1:c.64006G>T (TTN)	XP_011510033.1:p.Ala21336Ser
XM_017004819.1:c.90049G>T (TTN)	XP_016860308.1:p.Ala30017Ser
XM_017004820.1:c.85447G>T (TTN)	XP_016860309.1:p.Ala28483Ser
XM_017004821.1:c.85444G>T (TTN)	XP_016860310.1:p.Ala28482Ser
XM_017004822.1:c.82486G>T (TTN)	XP_016860311.1:p.Ala27496Ser
XM_017004823.1:c.64102G>T (TTN)	XP_016860312.1:p.Ala21368Ser
XM_024453094.1:c.85597G>T (TTN)	XP_024308862.1:p.Ala28533Ser
XM_024453095.1:c.85594G>T (TTN)	XP_024308863.1:p.Ala28532Ser
XM_024453096.1:c.85027G>T (TTN)	XP_024308864.1:p.Ala28343Ser
XM_024453097.1:c.82369G>T (TTN)	XP_024308865.1:p.Ala27457Ser
XM_024453098.1:c.82288G>T (TTN)	XP_024308866.1:p.Ala27430Ser
XM_024453099.1:c.64051G>T (TTN)	XP_024308867.1:p.Ala21351Ser
XM_024453100.1:c.53905G>T (TTN)	XP_024308868.1:p.Ala17969Ser