Canonical Allele Identifier: CA24553022

Gene: TNNI3K FPGT-TNNI3K

Linked Data

• dbSNP Id: rs182032934
• gnomAD v2: 1-74867829-G-A
• gnomAD v3: 1-74402145-G-A
• gnomAD v4: 1-74402145-G-A
• MyVariant Identifiers: chr1:g.74867829G>A (hg19) ; chr1:g.74402145G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.74402145G>A , CM000663.2:g.74402145G>A	GRCh38
NC_000001.10:g.74867829G>A , CM000663.1:g.74867829G>A	GRCh37
NC_000001.9:g.74640417G>A	NCBI36
NG_032939.2:g.208893G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326637.8:c.1772+31753G>A (TNNI3K) MANE Select	ENSP00000322251.3:n.1772+31753G>A
ENST00000557284.7:c.2075+31753G>A (FPGT-TNNI3K)	ENSP00000450895.3:n.2075+31753G>A
ENST00000648585.1:c.*1678+31753G>A (FPGT-TNNI3K)	ENSP00000497631.1:n.*1678+31753G>A
ENST00000326637.7:c.1772+31753G>A (TNNI3K)	ENSP00000322251.3:n.1772+31753G>A
ENST00000370899.7:c.2075+31753G>A (FPGT-TNNI3K)	ENSP00000359936.3:n.2075+31753G>A
ENST00000525480.2:c.332-16023G>A (TNNI3K)
ENST00000534020.5:c.463+188G>A (TNNI3K)	ENSP00000434975.1:n.463+188G>A
ENST00000557284.6:c.2114+31753G>A (FPGT-TNNI3K)	ENSP00000450895.2:n.2114+31753G>A
NM_001112808.2:c.2114+31753G>A (FPGT-TNNI3K)	NP_001106279.2:n.2114+31753G>A
NM_001199327.1:c.2114+31753G>A (FPGT-TNNI3K)	NP_001186256.2:n.2114+31753G>A
NM_015978.2:c.1772+31753G>A (TNNI3K)	NP_057062.1:n.1772+31753G>A
NM_015978.3:c.1772+31753G>A (TNNI3K) MANE Select	NP_057062.1:n.1772+31753G>A
NM_001112808.3:c.2075+31753G>A (FPGT-TNNI3K)	NP_001106279.3:n.2075+31753G>A
NM_001199327.2:c.2075+31753G>A (FPGT-TNNI3K)	NP_001186256.3:n.2075+31753G>A