Canonical Allele Identifier: CA397112167
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733635C>G , CM000678.2:g.88733635C>G GRCh38
NC_000016.9:g.88800043C>G , CM000678.1:g.88800043C>G GRCh37
NC_000016.8:g.87327544C>G NCBI36
NG_042229.1:g.56586G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2440G>C (PIEZO1) MANE Select ENSP00000301015.9:p.Val814Leu
ENST00000301015.13:c.2440G>C (PIEZO1) ENSP00000301015.9:p.Val814Leu
NM_001142864.2:c.2440G>C (PIEZO1) NP_001136336.2:p.Val814Leu
NM_001142864.3:c.2440G>C (PIEZO1) NP_001136336.2:p.Val814Leu
NR_103774.1:n.269+2187C>G (HSALR1)
NM_001142864.4:c.2440G>C (PIEZO1) MANE Select NP_001136336.2:p.Val814Leu