Canonical Allele Identifier: CA10581146
Gene: TNNC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 235060
dbSNP Id: rs876661393

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52452147G>T , CM000665.2:g.52452147G>T GRCh38
NC_000003.11:g.52486163G>T , CM000665.1:g.52486163G>T GRCh37
NC_000003.10:g.52461203G>T NCBI36
NG_008963.1:g.6895C>A , LRG_378:g.6895C>A
NG_033112.1:g.1640G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000232975.8:c.161C>A MANE Select ENSP00000232975.3:p.Pro54His
ENST00000232975.7:c.161C>A ENSP00000232975.3:p.Pro54His
ENST00000496590.1:c.29C>A ENSP00000420596.1:p.Pro10His
NM_003280.2:c.161C>A , LRG_378t1:c.161C>A NP_003271.1:p.Pro54His
NM_003280.3:c.161C>A MANE Select NP_003271.1:p.Pro54His