Canonical Allele Identifier: CA407440275

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 2088002
• ClinVar RCV Id: RCV003009849
• MyVariant Identifiers: chr19:g.55665423T>G (hg19) ; chr19:g.55154055T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55154055T>G , CM000681.2:g.55154055T>G	GRCh38
NC_000019.9:g.55665423T>G , CM000681.1:g.55665423T>G	GRCh37
NC_000019.8:g.60357235T>G	NCBI36
NG_007866.2:g.8678A>C , LRG_432:g.8678A>C
NG_011829.2:g.184A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000344887.10:c.524A>C MANE Select	ENSP00000341838.5:p.Gln175Pro
ENST00000665070.1:c.557A>C	ENSP00000499482.1:p.Gln186Pro
ENST00000344887.9:c.524A>C	ENSP00000341838.5:p.Gln175Pro
ENST00000585806.5:n.523A>C
ENST00000588882.1:c.449A>C	ENSP00000466729.1:p.Gln150Pro
ENST00000589864.1:n.352A>C
NM_000363.4:c.524A>C , LRG_432t1:c.524A>C	NP_000354.4:p.Gln175Pro
NM_000363.5:c.524A>C MANE Select	NP_000354.4:p.Gln175Pro