Canonical Allele Identifier: CA738769116
Gene: TNNI3K HGNC NCBI
FPGT-TNNI3K HGNC NCBI
LRRC53 HGNC NCBI

Linked Data

dbSNP Id: rs1195225353
MyVariant Identifiers: chr1:g.74993002A>G (hg19) chr1:g.74527318A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.74527318A>G , CM000663.2:g.74527318A>G GRCh38
NC_000001.10:g.74993002A>G , CM000663.1:g.74993002A>G GRCh37
NC_000001.9:g.74765590A>G NCBI36
NG_032939.2:g.334066A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000326637.8:c.2352-12916A>G (TNNI3K) MANE Select ENSP00000322251.3:n.2352-12916A>G
ENST00000557284.7:c.2655-12916A>G (FPGT-TNNI3K) ENSP00000450895.3:n.2655-12916A>G
ENST00000648585.1:c.*2258-12916A>G (FPGT-TNNI3K) ENSP00000497631.1:n.*2258-12916A>G
ENST00000326637.7:c.2352-12916A>G (TNNI3K) ENSP00000322251.3:n.2352-12916A>G
ENST00000557284.6:c.2694-12916A>G (FPGT-TNNI3K) ENSP00000450895.2:n.2694-12916A>G
NM_001112808.2:c.2694-12916A>G (FPGT-TNNI3K) NP_001106279.2:n.2694-12916A>G
NM_015978.2:c.2352-12916A>G (TNNI3K) NP_057062.1:n.2352-12916A>G
XM_011542511.1:c.49+9486T>C (LRRC53) XP_011540813.1:n.49+9486T>C
XM_011542512.3:c.49+9486T>C (LRRC53) XP_011540814.2:n.49+9486T>C
XM_017003081.1:c.49+9486T>C (LRRC53) XP_016858570.1:n.49+9486T>C
NM_015978.3:c.2352-12916A>G (TNNI3K) MANE Select NP_057062.1:n.2352-12916A>G
NM_001112808.3:c.2655-12916A>G (FPGT-TNNI3K) NP_001106279.3:n.2655-12916A>G
Search 100 bp 5'
Search 100 bp 3'