Canonical Allele Identifier: CA398006129

Gene: PER1

Linked Data

• dbSNP Id: rs1472635073
• gnomAD v2: 17-8047910-G-A
• gnomAD v4: 17-8144592-G-A
• MyVariant Identifiers: chr17:g.8047910G>A (hg19) ; chr17:g.8144592G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8144592G>A , CM000679.2:g.8144592G>A	GRCh38
NC_000017.10:g.8047910G>A , CM000679.1:g.8047910G>A	GRCh37
NC_000017.9:g.7988635G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000317276.9:c.2461+159C>T MANE Select	ENSP00000314420.4:n.2461+159C>T
ENST00000317276.8:c.2461+159C>T	ENSP00000314420.4:n.2461+159C>T
ENST00000354903.9:c.2572C>T	ENSP00000346979.5:p.Pro858Ser
ENST00000578089.1:n.394+159C>T
ENST00000578950.1:n.420+159C>T
ENST00000581082.5:c.2392+168C>T	ENSP00000462064.1:n.2392+168C>T
ENST00000581395.5:c.*615C>T	ENSP00000464696.1:n.*615C>T
ENST00000582719.5:c.2461+159C>T	ENSP00000463054.1:n.2461+159C>T
ENST00000583559.1:c.310+159C>T	ENSP00000463369.1:n.310+159C>T
NM_002616.2:c.2461+159C>T	NP_002607.2:n.2461+159C>T
XM_005256689.1:c.2461+159C>T	XP_005256746.1:n.2461+159C>T
XM_005256690.1:c.2281+159C>T	XP_005256747.1:n.2281+159C>T
XM_005256689.2:c.2461+159C>T	XP_005256746.1:n.2461+159C>T
XM_024450803.1:c.2440C>T	XP_024306571.1:p.Pro814Ser
NM_002616.3:c.2461+159C>T MANE Select	NP_002607.2:n.2461+159C>T