Canonical Allele Identifier: CA349611456

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178568847-G-T
• MyVariant Identifiers: chr2:g.179433574G>T (hg19) ; chr2:g.178568847G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568847G>T , CM000664.2:g.178568847G>T	GRCh38
NC_000002.11:g.179433574G>T , CM000664.1:g.179433574G>T	GRCh37
NC_000002.10:g.179141820G>T	NCBI36
NG_011618.3:g.266956C>A , LRG_391:g.266956C>A
NG_051363.1:g.51021G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69581C>A (TTN)	ENSP00000343764.6:p.Thr23194Asn
ENST00000342175.11:c.50666C>A (TTN)	ENSP00000340554.6:p.Thr16889Asn
ENST00000359218.10:c.50465C>A (TTN)	ENSP00000352154.5:p.Thr16822Asn
ENST00000342175.10:c.50666C>A (TTN)	ENSP00000340554.6:p.Thr16889Asn
ENST00000342992.10:c.69581C>A (TTN)	ENSP00000343764.6:p.Thr23194Asn
ENST00000359218.9:c.50465C>A (TTN)	ENSP00000352154.5:p.Thr16822Asn
ENST00000460472.6:c.50090C>A (TTN)	ENSP00000434586.1:p.Thr16697Asn
ENST00000589042.5:c.77285C>A (TTN) MANE Select	ENSP00000467141.1:p.Thr25762Asn
ENST00000591111.5:c.72362C>A (TTN)	ENSP00000465570.1:p.Thr24121Asn
ENST00000615779.4:c.72362C>A (TTN)	ENSP00000483597.1:p.Thr24121Asn
NM_001256850.1:c.72362C>A (TTN)	NP_001243779.1:p.Thr24121Asn
NM_001267550.2:c.77285C>A (TTN) MANE Select	NP_001254479.2:p.Thr25762Asn
NM_003319.4:c.50090C>A (TTN)	NP_003310.4:p.Thr16697Asn
NM_133378.4:c.69581C>A (TTN)	NP_596869.4:p.Thr23194Asn
NM_133432.3:c.50465C>A (TTN)	NP_597676.3:p.Thr16822Asn
NM_133437.4:c.50666C>A (TTN)	NP_597681.4:p.Thr16889Asn
NR_038271.1:n.447-2453G>T (TTN-AS1)
NR_038272.1:n.2044-13725G>T (TTN-AS1)
XM_011511729.1:c.76382C>A (TTN)	XP_011510031.1:p.Thr25461Asn
XM_011511730.1:c.50276C>A (TTN)	XP_011510032.1:p.Thr16759Asn
XM_011511731.1:c.50135C>A (TTN)	XP_011510033.1:p.Thr16712Asn
XM_017004819.1:c.76178C>A (TTN)	XP_016860308.1:p.Thr25393Asn
XM_017004820.1:c.71576C>A (TTN)	XP_016860309.1:p.Thr23859Asn
XM_017004821.1:c.71573C>A (TTN)	XP_016860310.1:p.Thr23858Asn
XM_017004822.1:c.68615C>A (TTN)	XP_016860311.1:p.Thr22872Asn
XM_017004823.1:c.50231C>A (TTN)	XP_016860312.1:p.Thr16744Asn
XM_024453094.1:c.71726C>A (TTN)	XP_024308862.1:p.Thr23909Asn
XM_024453095.1:c.71723C>A (TTN)	XP_024308863.1:p.Thr23908Asn
XM_024453096.1:c.71156C>A (TTN)	XP_024308864.1:p.Thr23719Asn
XM_024453097.1:c.68498C>A (TTN)	XP_024308865.1:p.Thr22833Asn
XM_024453098.1:c.68417C>A (TTN)	XP_024308866.1:p.Thr22806Asn
XM_024453099.1:c.50180C>A (TTN)	XP_024308867.1:p.Thr16727Asn
XM_024453100.1:c.40034C>A (TTN)	XP_024308868.1:p.Thr13345Asn