Canonical Allele Identifier: CA371778017
Gene: POP1 HGNC NCBI

Linked Data

gnomAD v4: 8-98158129-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98158129G>T , CM000670.2:g.98158129G>T GRCh38
NC_000008.10:g.99170357G>T , CM000670.1:g.99170357G>T GRCh37
NC_000008.9:g.99239533G>T NCBI36
NG_052869.1:g.45837G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2933G>T MANE Select ENSP00000385787.2:p.Cys978Phe
ENST00000349693.3:c.2933G>T ENSP00000339529.3:p.Cys978Phe
ENST00000401707.6:c.2933G>T ENSP00000385787.2:p.Cys978Phe
NM_001145860.1:c.2933G>T NP_001139332.1:p.Cys978Phe
NM_001145861.1:c.2933G>T NP_001139333.1:p.Cys978Phe
NM_015029.2:c.2933G>T NP_055844.2:p.Cys978Phe
NM_001145860.2:c.2933G>T MANE Select NP_001139332.1:p.Cys978Phe
NM_001145861.2:c.2933G>T NP_001139333.1:p.Cys978Phe
NM_015029.3:c.2933G>T NP_055844.2:p.Cys978Phe