Canonical Allele Identifier: CA297343
Gene: TNNC1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.52452153G>C
GRCh37 chr3:g.52486169G>C
Revel Score:
ENST00000232975 (MANE Select) 0.888
ENST00000496590 0.888
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52452153G>C , CM000665.2:g.52452153G>C GRCh38
NC_000003.11:g.52486169G>C , CM000665.1:g.52486169G>C GRCh37
NC_000003.10:g.52461209G>C NCBI36
NG_008963.1:g.6889C>G , LRG_378:g.6889C>G
NG_033112.1:g.1646G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000232975.8:c.155C>G MANE Select ENSP00000232975.3:p.Pro52Arg
ENST00000232975.7:c.155C>G ENSP00000232975.3:p.Pro52Arg
ENST00000496590.1:c.23C>G ENSP00000420596.1:p.Pro8Arg
NM_003280.2:c.155C>G , LRG_378t1:c.155C>G NP_003271.1:p.Pro52Arg
NM_003280.3:c.155C>G MANE Select NP_003271.1:p.Pro52Arg
Search 100 bp 5'
Search 100 bp 3'