Canonical Allele Identifier: CA775640149

Gene: PER1

Linked Data

• dbSNP Id: rs1413220454
• gnomAD v3: 17-8144602-C-A
• gnomAD v4: 17-8144602-C-A
• MyVariant Identifiers: chr17:g.8047920C>A (hg19) ; chr17:g.8144602C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8144602C>A , CM000679.2:g.8144602C>A	GRCh38
NC_000017.10:g.8047920C>A , CM000679.1:g.8047920C>A	GRCh37
NC_000017.9:g.7988645C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000317276.9:c.2461+149G>T MANE Select	ENSP00000314420.4:n.2461+149G>T
ENST00000317276.8:c.2461+149G>T	ENSP00000314420.4:n.2461+149G>T
ENST00000354903.9:c.2562G>T	ENSP00000346979.5:p.Ser854=
ENST00000578089.1:n.394+149G>T
ENST00000578950.1:n.420+149G>T
ENST00000581082.5:c.2392+158G>T	ENSP00000462064.1:n.2392+158G>T
ENST00000581395.5:c.*605G>T	ENSP00000464696.1:n.*605G>T
ENST00000582719.5:c.2461+149G>T	ENSP00000463054.1:n.2461+149G>T
ENST00000583559.1:c.310+149G>T	ENSP00000463369.1:n.310+149G>T
NM_002616.2:c.2461+149G>T	NP_002607.2:n.2461+149G>T
XM_005256689.1:c.2461+149G>T	XP_005256746.1:n.2461+149G>T
XM_005256690.1:c.2281+149G>T	XP_005256747.1:n.2281+149G>T
XM_005256689.2:c.2461+149G>T	XP_005256746.1:n.2461+149G>T
XM_024450803.1:c.2430G>T	XP_024306571.1:p.Ser810=
NM_002616.3:c.2461+149G>T MANE Select	NP_002607.2:n.2461+149G>T