Canonical Allele Identifier: CA407440569

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 1382452
• ClinVar RCV Id: RCV001922212
• dbSNP Id: rs2147283285
• MyVariant Identifiers: chr19:g.55665522G>A (hg19) ; chr19:g.55154154G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55154154G>A , CM000681.2:g.55154154G>A	GRCh38
NC_000019.9:g.55665522G>A , CM000681.1:g.55665522G>A	GRCh37
NC_000019.8:g.60357334G>A	NCBI36
NG_007866.2:g.8579C>T , LRG_432:g.8579C>T
NG_011829.2:g.85C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.425C>T MANE Select	ENSP00000341838.5:p.Pro142Leu
ENST00000665070.1:c.458C>T	ENSP00000499482.1:p.Pro153Leu
ENST00000344887.9:c.425C>T	ENSP00000341838.5:p.Pro142Leu
ENST00000585806.5:n.424C>T
ENST00000586669.5:n.433C>T
ENST00000588882.1:c.350C>T	ENSP00000466729.1:p.Pro117Leu
ENST00000589864.1:n.253C>T
NM_000363.4:c.425C>T , LRG_432t1:c.425C>T	NP_000354.4:p.Pro142Leu
NM_000363.5:c.425C>T MANE Select	NP_000354.4:p.Pro142Leu