Canonical Allele Identifier: CA409230616
Gene: PCIF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45947341C>T , CM000682.2:g.45947341C>T GRCh38
NC_000020.10:g.44575980C>T , CM000682.1:g.44575980C>T GRCh37
NC_000020.9:g.44009387C>T NCBI36
NG_029772.1:g.29854G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372409.8:c.1786C>T MANE Select ENSP00000361486.3:p.Leu596Phe
ENST00000372409.7:c.1786C>T ENSP00000361486.3:p.Leu596Phe
ENST00000479348.2:c.642C>T
NM_022104.3:c.1786C>T NP_071387.1:p.Leu596Phe
XM_011528980.1:c.1786C>T XP_011527282.1:p.Leu596Phe
XM_011528981.1:c.1786C>T XP_011527283.1:p.Leu596Phe
XM_011528982.1:c.742C>T XP_011527284.1:p.Leu248Phe
XM_011528980.3:c.1786C>T XP_011527282.1:p.Leu596Phe
XM_011528981.3:c.1786C>T XP_011527283.1:p.Leu596Phe
XM_017028013.2:c.1786C>T XP_016883502.1:p.Leu596Phe
XM_017028014.2:c.742C>T XP_016883503.1:p.Leu248Phe
NM_022104.4:c.1786C>T MANE Select NP_071387.1:p.Leu596Phe