Canonical Allele Identifier: CA409230620
Gene: PCIF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45947342T>C , CM000682.2:g.45947342T>C GRCh38
NC_000020.10:g.44575981T>C , CM000682.1:g.44575981T>C GRCh37
NC_000020.9:g.44009388T>C NCBI36
NG_029772.1:g.29853A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372409.8:c.1787T>C MANE Select ENSP00000361486.3:p.Leu596Pro
ENST00000372409.7:c.1787T>C ENSP00000361486.3:p.Leu596Pro
ENST00000479348.2:c.643T>C
NM_022104.3:c.1787T>C NP_071387.1:p.Leu596Pro
XM_011528980.1:c.1787T>C XP_011527282.1:p.Leu596Pro
XM_011528981.1:c.1787T>C XP_011527283.1:p.Leu596Pro
XM_011528982.1:c.743T>C XP_011527284.1:p.Leu248Pro
XM_011528980.3:c.1787T>C XP_011527282.1:p.Leu596Pro
XM_011528981.3:c.1787T>C XP_011527283.1:p.Leu596Pro
XM_017028013.2:c.1787T>C XP_016883502.1:p.Leu596Pro
XM_017028014.2:c.743T>C XP_016883503.1:p.Leu248Pro
NM_022104.4:c.1787T>C MANE Select NP_071387.1:p.Leu596Pro