Canonical Allele Identifier: CA349476428

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535040
• ClinVar RCV Id: RCV000642799
• dbSNP Id: rs1553525592
• MyVariant Identifiers: chr2:g.179412033C>T (hg19) ; chr2:g.178547306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178547306C>T , CM000664.2:g.178547306C>T	GRCh38
NC_000002.11:g.179412033C>T , CM000664.1:g.179412033C>T	GRCh37
NC_000002.10:g.179120279C>T	NCBI36
NG_011618.3:g.288497G>A , LRG_391:g.288497G>A
NG_051363.1:g.29480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86516-1G>A (TTN)	ENSP00000343764.6:n.86516-1G>A
ENST00000342175.11:c.67601-1G>A (TTN)	ENSP00000340554.6:n.67601-1G>A
ENST00000359218.10:c.67400-1G>A (TTN)	ENSP00000352154.5:n.67400-1G>A
ENST00000342175.10:c.67601-1G>A (TTN)	ENSP00000340554.6:n.67601-1G>A
ENST00000342992.10:c.86516-1G>A (TTN)	ENSP00000343764.6:n.86516-1G>A
ENST00000359218.9:c.67400-1G>A (TTN)	ENSP00000352154.5:n.67400-1G>A
ENST00000460472.6:c.67025-1G>A (TTN)	ENSP00000434586.1:n.67025-1G>A
ENST00000589042.5:c.94220-1G>A (TTN) MANE Select	ENSP00000467141.1:n.94220-1G>A
ENST00000591111.5:c.89297-1G>A (TTN)	ENSP00000465570.1:n.89297-1G>A
ENST00000615779.4:c.89297-1G>A (TTN)	ENSP00000483597.1:n.89297-1G>A
NM_001256850.1:c.89297-1G>A (TTN)	NP_001243779.1:n.89297-1G>A
NM_001267550.2:c.94220-1G>A (TTN) MANE Select	NP_001254479.2:n.94220-1G>A
NM_003319.4:c.67025-1G>A (TTN)	NP_003310.4:n.67025-1G>A
NM_133378.4:c.86516-1G>A (TTN)	NP_596869.4:n.86516-1G>A
NM_133432.3:c.67400-1G>A (TTN)	NP_597676.3:n.67400-1G>A
NM_133437.4:c.67601-1G>A (TTN)	NP_597681.4:n.67601-1G>A
NR_038271.1:n.446+23670C>T (TTN-AS1)
NR_038272.1:n.2043+4945C>T (TTN-AS1)
XM_011511729.1:c.93317-1G>A (TTN)	XP_011510031.1:n.93317-1G>A
XM_011511730.1:c.67211-1G>A (TTN)	XP_011510032.1:n.67211-1G>A
XM_011511731.1:c.67070-1G>A (TTN)	XP_011510033.1:n.67070-1G>A
XM_017004819.1:c.93113-1G>A (TTN)	XP_016860308.1:n.93113-1G>A
XM_017004820.1:c.88511-1G>A (TTN)	XP_016860309.1:n.88511-1G>A
XM_017004821.1:c.88508-1G>A (TTN)	XP_016860310.1:n.88508-1G>A
XM_017004822.1:c.85550-1G>A (TTN)	XP_016860311.1:n.85550-1G>A
XM_017004823.1:c.67166-1G>A (TTN)	XP_016860312.1:n.67166-1G>A
XM_024453094.1:c.88661-1G>A (TTN)	XP_024308862.1:n.88661-1G>A
XM_024453095.1:c.88658-1G>A (TTN)	XP_024308863.1:n.88658-1G>A
XM_024453096.1:c.88091-1G>A (TTN)	XP_024308864.1:n.88091-1G>A
XM_024453097.1:c.85433-1G>A (TTN)	XP_024308865.1:n.85433-1G>A
XM_024453098.1:c.85352-1G>A (TTN)	XP_024308866.1:n.85352-1G>A
XM_024453099.1:c.67115-1G>A (TTN)	XP_024308867.1:n.67115-1G>A
XM_024453100.1:c.56969-1G>A (TTN)	XP_024308868.1:n.56969-1G>A