Canonical Allele Identifier: CA407439519

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 1018432
• ClinVar RCV Id: RCV001317731
• dbSNP Id: rs2085696801
• MyVariant Identifiers: chr19:g.55663240T>A (hg19) ; chr19:g.55151872T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55151872T>A , CM000681.2:g.55151872T>A	GRCh38
NC_000019.9:g.55663240T>A , CM000681.1:g.55663240T>A	GRCh37
NC_000019.8:g.60355052T>A	NCBI36
NG_007866.2:g.10861A>T , LRG_432:g.10861A>T
NG_011829.2:g.2367A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000344887.10:c.595A>T MANE Select	ENSP00000341838.5:p.Ser199Cys
ENST00000665070.1:c.628A>T	ENSP00000499482.1:p.Ser210Cys
ENST00000344887.9:c.595A>T	ENSP00000341838.5:p.Ser199Cys
ENST00000585806.5:n.594A>T
ENST00000588882.1:c.520A>T	ENSP00000466729.1:p.Ser174Cys
ENST00000589864.1:n.423A>T
NM_000363.4:c.595A>T , LRG_432t1:c.595A>T	NP_000354.4:p.Ser199Cys
NM_000363.5:c.595A>T MANE Select	NP_000354.4:p.Ser199Cys