Canonical Allele Identifier: CA397112583

Gene: PIEZO1 HSALR1

Linked Data

• dbSNP Id: rs1318162234
• gnomAD v2: 16-88800320-G-A
• gnomAD v4: 16-88733912-G-A
• MyVariant Identifiers: chr16:g.88800320G>A (hg19) ; chr16:g.88733912G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733912G>A , CM000678.2:g.88733912G>A	GRCh38
NC_000016.9:g.88800320G>A , CM000678.1:g.88800320G>A	GRCh37
NC_000016.8:g.87327821G>A	NCBI36
NG_042229.1:g.56309C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2323C>T (PIEZO1) MANE Select	ENSP00000301015.9:p.Pro775Ser
ENST00000301015.13:c.2323C>T (PIEZO1)	ENSP00000301015.9:p.Pro775Ser
NM_001142864.2:c.2323C>T (PIEZO1)	NP_001136336.2:p.Pro775Ser
NM_001142864.3:c.2323C>T (PIEZO1)	NP_001136336.2:p.Pro775Ser
NR_103774.1:n.269+2464G>A (HSALR1)
NM_001142864.4:c.2323C>T (PIEZO1) MANE Select	NP_001136336.2:p.Pro775Ser