Canonical Allele Identifier: CA728972
Gene: PUM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.30953968A>G , CM000663.2:g.30953968A>G GRCh38
NC_000001.10:g.31426815A>G , CM000663.1:g.31426815A>G GRCh37
NC_000001.9:g.31199402A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000426105.7:c.2337T>C MANE Select ENSP00000391723.2:p.Asn779=
ENST00000257075.9:c.2337T>C ENSP00000257075.5:p.Asn779=
ENST00000373741.8:c.2445T>C ENSP00000362846.4:p.Asn815=
ENST00000373742.6:c.2160T>C ENSP00000362847.2:p.Asn720=
ENST00000373747.7:c.2340T>C ENSP00000362852.3:p.Asn780=
ENST00000424085.6:c.1611T>C ENSP00000400141.2:p.Asn537=
ENST00000426105.6:c.2337T>C ENSP00000391723.2:p.Asn779=
ENST00000440538.6:c.2259T>C ENSP00000401777.2:p.Asn753=
ENST00000498419.5:c.1471T>C
ENST00000525843.5:c.2152T>C
ENST00000527498.1:c.200-150T>C ENSP00000431779.1:n.200-150T>C
NM_001020658.1:c.2337T>C NP_001018494.1:p.Asn779=
NM_014676.2:c.2337T>C NP_055491.1:p.Asn779=
NM_001020658.2:c.2337T>C MANE Select NP_001018494.1:p.Asn779=
NM_014676.3:c.2337T>C NP_055491.1:p.Asn779=