Canonical Allele Identifier: CA021822
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 165513
ClinVar RCV Id: RCV000152074 RCV000157532 RCV001036762
dbSNP Id: rs727503501
MyVariant Identifiers: chr19:g.55665421C>T (hg19) chr19:g.55154053C>T (hg38)
PubMed: PMID:23396983
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154053C>T , CM000681.2:g.55154053C>T GRCh38
NC_000019.9:g.55665421C>T , CM000681.1:g.55665421C>T GRCh37
NC_000019.8:g.60357233C>T NCBI36
NG_007866.2:g.8680G>A , LRG_432:g.8680G>A
NG_011829.2:g.186G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344887.10:c.526G>A MANE Select ENSP00000341838.5:p.Val176Met
ENST00000665070.1:c.559G>A ENSP00000499482.1:p.Val187Met
ENST00000344887.9:c.526G>A ENSP00000341838.5:p.Val176Met
ENST00000585806.5:n.525G>A
ENST00000588882.1:c.451G>A ENSP00000466729.1:p.Val151Met
ENST00000589864.1:n.354G>A
NM_000363.4:c.526G>A , LRG_432t1:c.526G>A NP_000354.4:p.Val176Met
NM_000363.5:c.526G>A MANE Select NP_000354.4:p.Val176Met
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