Canonical Allele Identifier: CA8369646
Gene: PER1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.8147419G>A
GRCh37 chr17:g.8050737G>A
gnomAD v2:
17:8050737 G / A
gnomAD v3:
17:8147419 G / A
gnomAD v4:
chr17-8147419-G-A
Joint Max Group AF 0.00029198 (NFE)
Genomes Max Group AF 0.00004771 (NFE)
Exomes Max Group AF 0.00030342 (NFE)
dbSNP:
885747
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8147419G>A , CM000679.2:g.8147419G>A GRCh38
NC_000017.10:g.8050737G>A , CM000679.1:g.8050737G>A GRCh37
NC_000017.9:g.7991462G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000317276.9:c.1498-38C>T MANE Select ENSP00000314420.4:n.1498-38C>T
ENST00000317276.8:c.1498-38C>T ENSP00000314420.4:n.1498-38C>T
ENST00000354903.9:c.1450-38C>T ENSP00000346979.5:n.1450-38C>T
ENST00000577424.1:n.114-38C>T
ENST00000579203.1:n.442-38C>T
ENST00000581082.5:c.1438-38C>T ENSP00000462064.1:n.1438-38C>T
ENST00000581395.5:c.1498-38C>T ENSP00000464696.1:n.1498-38C>T
ENST00000582719.5:c.1498-38C>T ENSP00000463054.1:n.1498-38C>T
ENST00000585095.1:n.81-38C>T
NM_002616.2:c.1498-38C>T NP_002607.2:n.1498-38C>T
XM_005256689.1:c.1498-38C>T XP_005256746.1:n.1498-38C>T
XM_005256690.1:c.1498-38C>T XP_005256747.1:n.1498-38C>T
XM_005256689.2:c.1498-38C>T XP_005256746.1:n.1498-38C>T
XM_024450803.1:c.1498-38C>T XP_024306571.1:n.1498-38C>T
NM_002616.3:c.1498-38C>T MANE Select NP_002607.2:n.1498-38C>T
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