Canonical Allele Identifier: CA508989472
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2564934
ClinVar RCV Id: RCV003297326
MyVariant Identifiers: chr19:g.55665554C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154186C>T , CM000681.2:g.55154186C>T GRCh38
NC_000019.9:g.55665554C>T , CM000681.1:g.55665554C>T GRCh37
NC_000019.8:g.60357366C>T NCBI36
NG_007866.2:g.8547G>A , LRG_432:g.8547G>A
NG_011829.2:g.53G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.393G>A MANE Select ENSP00000341838.5:p.Lys131=
ENST00000665070.1:c.426G>A ENSP00000499482.1:p.Lys142=
ENST00000344887.9:c.393G>A ENSP00000341838.5:p.Lys131=
ENST00000585806.5:n.392G>A
ENST00000586669.5:n.401G>A
ENST00000588882.1:c.318G>A ENSP00000466729.1:p.Lys106=
ENST00000589864.1:n.221G>A
NM_000363.4:c.393G>A , LRG_432t1:c.393G>A NP_000354.4:p.Lys131=
NM_000363.5:c.393G>A MANE Select NP_000354.4:p.Lys131=