Canonical Allele Identifier: CA409230549

Gene: PCIF1

Linked Data

• MyVariant Identifiers: chr20:g.44575969C>T (hg19) ; chr20:g.45947330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947330C>T , CM000682.2:g.45947330C>T	GRCh38
NC_000020.10:g.44575969C>T , CM000682.1:g.44575969C>T	GRCh37
NC_000020.9:g.44009376C>T	NCBI36
NG_029772.1:g.29865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.1775C>T MANE Select	ENSP00000361486.3:p.Pro592Leu
ENST00000372409.7:c.1775C>T	ENSP00000361486.3:p.Pro592Leu
ENST00000479348.2:c.631C>T
NM_022104.3:c.1775C>T	NP_071387.1:p.Pro592Leu
XM_011528980.1:c.1775C>T	XP_011527282.1:p.Pro592Leu
XM_011528981.1:c.1775C>T	XP_011527283.1:p.Pro592Leu
XM_011528982.1:c.731C>T	XP_011527284.1:p.Pro244Leu
XM_011528980.3:c.1775C>T	XP_011527282.1:p.Pro592Leu
XM_011528981.3:c.1775C>T	XP_011527283.1:p.Pro592Leu
XM_017028013.2:c.1775C>T	XP_016883502.1:p.Pro592Leu
XM_017028014.2:c.731C>T	XP_016883503.1:p.Pro244Leu
NM_022104.4:c.1775C>T MANE Select	NP_071387.1:p.Pro592Leu