Canonical Allele Identifier: CA349672057

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178577896-G-T
• MyVariant Identifiers: chr2:g.179442623G>T (hg19) ; chr2:g.178577896G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178577896G>T , CM000664.2:g.178577896G>T	GRCh38
NC_000002.11:g.179442623G>T , CM000664.1:g.179442623G>T	GRCh37
NC_000002.10:g.179150869G>T	NCBI36
NG_011618.3:g.257907C>A , LRG_391:g.257907C>A
NG_051363.1:g.60070G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.60826C>A (TTN)	ENSP00000343764.6:p.Pro20276Thr
ENST00000342175.11:c.41911C>A (TTN)	ENSP00000340554.6:p.Pro13971Thr
ENST00000359218.10:c.41710C>A (TTN)	ENSP00000352154.5:p.Pro13904Thr
ENST00000342175.10:c.41911C>A (TTN)	ENSP00000340554.6:p.Pro13971Thr
ENST00000342992.10:c.60826C>A (TTN)	ENSP00000343764.6:p.Pro20276Thr
ENST00000359218.9:c.41710C>A (TTN)	ENSP00000352154.5:p.Pro13904Thr
ENST00000460472.6:c.41335C>A (TTN)	ENSP00000434586.1:p.Pro13779Thr
ENST00000589042.5:c.68530C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro22844Thr
ENST00000591111.5:c.63607C>A (TTN)	ENSP00000465570.1:p.Pro21203Thr
ENST00000615779.4:c.63607C>A (TTN)	ENSP00000483597.1:p.Pro21203Thr
NM_001256850.1:c.63607C>A (TTN)	NP_001243779.1:p.Pro21203Thr
NM_001267550.2:c.68530C>A (TTN) MANE Select	NP_001254479.2:p.Pro22844Thr
NM_003319.4:c.41335C>A (TTN)	NP_003310.4:p.Pro13779Thr
NM_133378.4:c.60826C>A (TTN)	NP_596869.4:p.Pro20276Thr
NM_133432.3:c.41710C>A (TTN)	NP_597676.3:p.Pro13904Thr
NM_133437.4:c.41911C>A (TTN)	NP_597681.4:p.Pro13971Thr
NR_038271.1:n.596+6447G>T (TTN-AS1)
NR_038272.1:n.2044-4676G>T (TTN-AS1)
XM_011511729.1:c.67627C>A (TTN)	XP_011510031.1:p.Pro22543Thr
XM_011511730.1:c.41521C>A (TTN)	XP_011510032.1:p.Pro13841Thr
XM_011511731.1:c.41380C>A (TTN)	XP_011510033.1:p.Pro13794Thr
XM_017004819.1:c.67423C>A (TTN)	XP_016860308.1:p.Pro22475Thr
XM_017004820.1:c.62821C>A (TTN)	XP_016860309.1:p.Pro20941Thr
XM_017004821.1:c.62818C>A (TTN)	XP_016860310.1:p.Pro20940Thr
XM_017004822.1:c.59860C>A (TTN)	XP_016860311.1:p.Pro19954Thr
XM_017004823.1:c.41476C>A (TTN)	XP_016860312.1:p.Pro13826Thr
XM_024453094.1:c.62971C>A (TTN)	XP_024308862.1:p.Pro20991Thr
XM_024453095.1:c.62968C>A (TTN)	XP_024308863.1:p.Pro20990Thr
XM_024453096.1:c.62401C>A (TTN)	XP_024308864.1:p.Pro20801Thr
XM_024453097.1:c.59743C>A (TTN)	XP_024308865.1:p.Pro19915Thr
XM_024453098.1:c.59662C>A (TTN)	XP_024308866.1:p.Pro19888Thr
XM_024453099.1:c.41425C>A (TTN)	XP_024308867.1:p.Pro13809Thr
XM_024453100.1:c.31279C>A (TTN)	XP_024308868.1:p.Pro10427Thr