Canonical Allele Identifier: CA398006164
Gene: PER1 HGNC NCBI

Linked Data

gnomAD v4: 17-8144600-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8144600A>G , CM000679.2:g.8144600A>G GRCh38
NC_000017.10:g.8047918A>G , CM000679.1:g.8047918A>G GRCh37
NC_000017.9:g.7988643A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000317276.9:c.2461+151T>C MANE Select ENSP00000314420.4:n.2461+151T>C
ENST00000317276.8:c.2461+151T>C ENSP00000314420.4:n.2461+151T>C
ENST00000354903.9:c.2564T>C ENSP00000346979.5:p.Leu855Pro
ENST00000578089.1:n.394+151T>C
ENST00000578950.1:n.420+151T>C
ENST00000581082.5:c.2392+160T>C ENSP00000462064.1:n.2392+160T>C
ENST00000581395.5:c.*607T>C ENSP00000464696.1:n.*607T>C
ENST00000582719.5:c.2461+151T>C ENSP00000463054.1:n.2461+151T>C
ENST00000583559.1:c.310+151T>C ENSP00000463369.1:n.310+151T>C
NM_002616.2:c.2461+151T>C NP_002607.2:n.2461+151T>C
XM_005256689.1:c.2461+151T>C XP_005256746.1:n.2461+151T>C
XM_005256690.1:c.2281+151T>C XP_005256747.1:n.2281+151T>C
XM_005256689.2:c.2461+151T>C XP_005256746.1:n.2461+151T>C
XM_024450803.1:c.2432T>C XP_024306571.1:p.Leu811Pro
NM_002616.3:c.2461+151T>C MANE Select NP_002607.2:n.2461+151T>C