Canonical Allele Identifier: CA1118080

Gene: NPR1

Linked Data

• dbSNP Id: rs751927964
• ExAC: 1:153656239 C / A
• gnomAD v2: 1-153656239-C-A
• MyVariant Identifiers: chr1:g.153656239C>A (hg19) ; chr1:g.153683763C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153683763C>A , CM000663.2:g.153683763C>A	GRCh38
NC_000001.10:g.153656239C>A , CM000663.1:g.153656239C>A	GRCh37
NC_000001.9:g.151922863C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368680.4:c.1423C>A MANE Select	ENSP00000357669.3:p.Leu475Met
ENST00000368680.3:c.1423C>A	ENSP00000357669.3:p.Leu475Met
NM_000906.3:c.1423C>A	NP_000897.3:p.Leu475Met
XM_005245218.1:c.1423C>A	XP_005245275.1:p.Leu475Met
XM_006711342.1:c.1423C>A	XP_006711405.1:p.Leu475Met
XM_006711343.1:c.1423C>A	XP_006711406.1:p.Leu475Met
XM_011509585.1:c.1423C>A	XP_011507887.1:p.Leu475Met
XM_005245218.2:c.1423C>A	XP_005245275.1:p.Leu475Met
XM_017001374.2:c.1423C>A	XP_016856863.1:p.Leu475Met
NM_000906.4:c.1423C>A MANE Select	NP_000897.3:p.Leu475Met