Canonical Allele Identifier: CA2246174454
Community Standard Title: NM_002616.3(PER1):c.2247C= (p.Gly749=)
Gene: PER1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8144965G= , CM000679.2:g.8144965G= GRCh38
NC_000017.10:g.8048283G= , CM000679.1:g.8048283G= GRCh37
NC_000017.9:g.7989008G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002616.3:c.2247C= MANE Select NP_002607.2:p.Gly749=
ENST00000317276.9:c.2247C= MANE Select ENSP00000314420.4:p.Gly749=
NM_002616.2:c.2247C= NP_002607.2:p.Gly749=
ENST00000317276.8:c.2247C= ENSP00000314420.4:p.Gly749=
ENST00000354903.9:c.2199C= ENSP00000346979.5:p.Gly733=
ENST00000578089.1:n.298-118C=
ENST00000578950.1:n.206C=
ENST00000581082.5:c.2187C= ENSP00000462064.1:p.Gly729=
ENST00000581395.5:c.*242C= ENSP00000464696.1:n.*242C=
ENST00000582719.5:c.2247C= ENSP00000463054.1:p.Gly749=
ENST00000583559.1:c.96C= ENSP00000463369.1:p.Gly32=
XM_005256689.1:c.2247C= XP_005256746.1:p.Gly749=
XM_005256689.2:c.2247C= XP_005256746.1:p.Gly749=
XM_005256690.1:c.2067C= XP_005256747.1:p.Gly689=
XM_024450803.1:c.2067C= XP_024306571.1:p.Gly689=