Canonical Allele Identifier: CA8370280
Gene: PER1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.8152405A>G
GRCh37 chr17:g.8055723A>G
gnomAD v2:
17:8055723 A / G
gnomAD v3:
17:8152405 A / G
gnomAD v4:
chr17-8152405-A-G
Joint Max Group AF 0.22811897 (NFE)
Genomes Max Group AF 0.22822453 (NFE)
Exomes Max Group AF 0.14218644 (NFE)
dbSNP:
3027172
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8152405A>G , CM000679.2:g.8152405A>G GRCh38
NC_000017.10:g.8055723A>G , CM000679.1:g.8055723A>G GRCh37
NC_000017.9:g.7996448A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000317276.8:c.-208T>C ENSP00000314420.4:n.-208T>C
ENST00000354903.9:c.49-1795T>C ENSP00000346979.5:n.49-1795T>C
ENST00000498285.1:c.335-1560T>C ENSP00000464383.1:n.335-1560T>C
ENST00000577253.5:c.-139-1560T>C ENSP00000462546.1:n.-139-1560T>C
ENST00000581395.5:c.-139-1560T>C ENSP00000464696.1:n.-139-1560T>C
ENST00000581703.1:c.28T>C ENSP00000463385.1:p.Trp10Arg
ENST00000584202.1:c.-140+1525T>C ENSP00000463661.1:n.-140+1525T>C
NM_002616.2:c.-208T>C NP_002607.2:n.-208T>C
XM_005256689.1:c.-139-1560T>C XP_005256746.1:n.-139-1560T>C
XM_005256690.1:c.-208T>C XP_005256747.1:n.-208T>C
XM_005256689.2:c.-139-1560T>C XP_005256746.1:n.-139-1560T>C
XM_024450803.1:c.-139-1560T>C XP_024306571.1:n.-139-1560T>C
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