Canonical Allele Identifier: CA398006548

Gene: PER1

Linked Data

• dbSNP Id: rs2289591
• gnomAD v2: 17-8048010-C-T
• gnomAD v4: 17-8144692-C-T
• MyVariant Identifiers: chr17:g.8048010C>T (hg19) ; chr17:g.8144692C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8144692C>T , CM000679.2:g.8144692C>T	GRCh38
NC_000017.10:g.8048010C>T , CM000679.1:g.8048010C>T	GRCh37
NC_000017.9:g.7988735C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000317276.9:c.2461+59G>A MANE Select	ENSP00000314420.4:n.2461+59G>A
ENST00000317276.8:c.2461+59G>A	ENSP00000314420.4:n.2461+59G>A
ENST00000354903.9:c.2472G>A	ENSP00000346979.5:p.Trp824Ter
ENST00000578089.1:n.394+59G>A
ENST00000578950.1:n.420+59G>A
ENST00000581082.5:c.2392+68G>A	ENSP00000462064.1:n.2392+68G>A
ENST00000581395.5:c.*515G>A	ENSP00000464696.1:n.*515G>A
ENST00000582719.5:c.2461+59G>A	ENSP00000463054.1:n.2461+59G>A
ENST00000583559.1:c.310+59G>A	ENSP00000463369.1:n.310+59G>A
NM_002616.2:c.2461+59G>A	NP_002607.2:n.2461+59G>A
XM_005256689.1:c.2461+59G>A	XP_005256746.1:n.2461+59G>A
XM_005256690.1:c.2281+59G>A	XP_005256747.1:n.2281+59G>A
XM_005256689.2:c.2461+59G>A	XP_005256746.1:n.2461+59G>A
XM_024450803.1:c.2340G>A	XP_024306571.1:p.Trp780Ter
NM_002616.3:c.2461+59G>A MANE Select	NP_002607.2:n.2461+59G>A