Canonical Allele Identifier: CA211289
Gene: PIEZO1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.88725505C>G
GRCh37 chr16:g.88791913C>G
Revel Score:
ENST00000301015 (MANE Select) 0.499
ENST00000474606 0.221
ClinVar RCV:
RCV000049234
ClinVar Variation:
55808
dbSNP:
587776990
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88725505C>G , CM000678.2:g.88725505C>G GRCh38
NC_000016.9:g.88791913C>G , CM000678.1:g.88791913C>G GRCh37
NC_000016.8:g.87319414C>G NCBI36
NG_042229.1:g.64716G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.4073G>C MANE Select ENSP00000301015.9:p.Arg1358Pro
ENST00000301015.13:c.4073G>C ENSP00000301015.9:p.Arg1358Pro
ENST00000474606.1:c.166G>C
ENST00000475586.1:n.446G>C
NM_001142864.2:c.4073G>C NP_001136336.2:p.Arg1358Pro
NM_001142864.3:c.4073G>C NP_001136336.2:p.Arg1358Pro
NM_001142864.4:c.4073G>C MANE Select NP_001136336.2:p.Arg1358Pro
Search 100 bp 5'
Search 100 bp 3'