Canonical Allele Identifier: CA021749

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 43390
• ClinVar RCV Id: RCV000629031 ; RCV002250504 ; RCV003162313
• dbSNP Id: rs397516354
• MyVariant Identifiers: chr19:g.55665462C>G (hg19) ; chr19:g.55154094C>G (hg38)
• PubMed: PMID:12707239 ; PMID:15698845 ; PMID:16199542 ; PMID:21511876 ; PMID:25524337

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55154094C>G , CM000681.2:g.55154094C>G	GRCh38
NC_000019.9:g.55665462C>G , CM000681.1:g.55665462C>G	GRCh37
NC_000019.8:g.60357274C>G	NCBI36
NG_007866.2:g.8639G>C , LRG_432:g.8639G>C
NG_011829.2:g.145G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.485G>C MANE Select	ENSP00000341838.5:p.Arg162Pro
ENST00000665070.1:c.518G>C	ENSP00000499482.1:p.Arg173Pro
ENST00000344887.9:c.485G>C	ENSP00000341838.5:p.Arg162Pro
ENST00000585806.5:n.484G>C
ENST00000588882.1:c.410G>C	ENSP00000466729.1:p.Arg137Pro
ENST00000589864.1:n.313G>C
NM_000363.4:c.485G>C , LRG_432t1:c.485G>C	NP_000354.4:p.Arg162Pro
NM_000363.5:c.485G>C MANE Select	NP_000354.4:p.Arg162Pro