Canonical Allele Identifier: CA407440305

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 1307189
• ClinVar RCV Id: RCV001760607
• dbSNP Id: rs2147283204
• MyVariant Identifiers: chr19:g.55665441A>G (hg19) ; chr19:g.55154073A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55154073A>G , CM000681.2:g.55154073A>G	GRCh38
NC_000019.9:g.55665441A>G , CM000681.1:g.55665441A>G	GRCh37
NC_000019.8:g.60357253A>G	NCBI36
NG_007866.2:g.8660T>C , LRG_432:g.8660T>C
NG_011829.2:g.166T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000344887.10:c.506T>C MANE Select	ENSP00000341838.5:p.Leu169Pro
ENST00000665070.1:c.539T>C	ENSP00000499482.1:p.Leu180Pro
ENST00000344887.9:c.506T>C	ENSP00000341838.5:p.Leu169Pro
ENST00000585806.5:n.505T>C
ENST00000588882.1:c.431T>C	ENSP00000466729.1:p.Leu144Pro
ENST00000589864.1:n.334T>C
NM_000363.4:c.506T>C , LRG_432t1:c.506T>C	NP_000354.4:p.Leu169Pro
NM_000363.5:c.506T>C MANE Select	NP_000354.4:p.Leu169Pro