Canonical Allele Identifier: CA1176204654
Gene: TNNI3K HGNC NCBI
FPGT-TNNI3K HGNC NCBI
LRRC53 HGNC NCBI

Linked Data

dbSNP Id: rs1646516863
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.74527341T>C , CM000663.2:g.74527341T>C GRCh38
NC_000001.10:g.74993025T>C , CM000663.1:g.74993025T>C GRCh37
NC_000001.9:g.74765613T>C NCBI36
NG_032939.2:g.334089T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000326637.8:c.2352-12893T>C (TNNI3K) MANE Select ENSP00000322251.3:n.2352-12893T>C
ENST00000557284.7:c.2655-12893T>C (FPGT-TNNI3K) ENSP00000450895.3:n.2655-12893T>C
ENST00000648585.1:c.*2258-12893T>C (FPGT-TNNI3K) ENSP00000497631.1:n.*2258-12893T>C
ENST00000326637.7:c.2352-12893T>C (TNNI3K) ENSP00000322251.3:n.2352-12893T>C
ENST00000557284.6:c.2694-12893T>C (FPGT-TNNI3K) ENSP00000450895.2:n.2694-12893T>C
NM_001112808.2:c.2694-12893T>C (FPGT-TNNI3K) NP_001106279.2:n.2694-12893T>C
NM_015978.2:c.2352-12893T>C (TNNI3K) NP_057062.1:n.2352-12893T>C
XM_011542511.1:c.49+9463A>G (LRRC53) XP_011540813.1:n.49+9463A>G
XM_011542512.3:c.49+9463A>G (LRRC53) XP_011540814.2:n.49+9463A>G
XM_017003081.1:c.49+9463A>G (LRRC53) XP_016858570.1:n.49+9463A>G
NM_015978.3:c.2352-12893T>C (TNNI3K) MANE Select NP_057062.1:n.2352-12893T>C
NM_001112808.3:c.2655-12893T>C (FPGT-TNNI3K) NP_001106279.3:n.2655-12893T>C
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