Canonical Allele Identifier: CA174028
Gene: TNNI3K HGNC NCBI
FPGT-TNNI3K HGNC NCBI

Linked Data

ClinVar Variation Id: 161447
ClinVar RCV Id: RCV000148950 RCV001850021
dbSNP Id: rs606231469
MyVariant Identifiers: chr1:g.74835179G>A (hg19) chr1:g.74369495G>A (hg38)
PubMed: PMID:24925317
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.74369495G>A , CM000663.2:g.74369495G>A GRCh38
NC_000001.10:g.74835179G>A , CM000663.1:g.74835179G>A GRCh37
NC_000001.9:g.74607767G>A NCBI36
NG_032939.2:g.176243G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326637.8:c.1577G>A (TNNI3K) MANE Select ENSP00000322251.3:p.Gly526Asp
ENST00000557284.7:c.1880G>A (FPGT-TNNI3K) ENSP00000450895.3:p.Gly627Asp
ENST00000648585.1:c.*1483G>A (FPGT-TNNI3K) ENSP00000497631.1:n.*1483G>A
ENST00000326637.7:c.1577G>A (TNNI3K) ENSP00000322251.3:p.Gly526Asp
ENST00000370895.5:c.1880G>A (FPGT-TNNI3K) ENSP00000359932.1:p.Gly627Asp
ENST00000370899.7:c.1880G>A (FPGT-TNNI3K) ENSP00000359936.3:p.Gly627Asp
ENST00000497284.1:n.258G>A (TNNI3K)
ENST00000525480.2:c.136G>A (TNNI3K)
ENST00000526236.5:c.217G>A (TNNI3K)
ENST00000534020.5:c.149G>A (TNNI3K) ENSP00000434975.1:p.Gly50Asp
ENST00000557284.6:c.1919G>A (FPGT-TNNI3K) ENSP00000450895.2:p.Gly640Asp
NM_001112808.2:c.1919G>A (FPGT-TNNI3K) NP_001106279.2:p.Gly640Asp
NM_001199327.1:c.1919G>A (FPGT-TNNI3K) NP_001186256.2:p.Gly640Asp
NM_015978.2:c.1577G>A (TNNI3K) NP_057062.1:p.Gly526Asp
NM_015978.3:c.1577G>A (TNNI3K) MANE Select NP_057062.1:p.Gly526Asp
NM_001112808.3:c.1880G>A (FPGT-TNNI3K) NP_001106279.3:p.Gly627Asp
NM_001199327.2:c.1880G>A (FPGT-TNNI3K) NP_001186256.3:p.Gly627Asp
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