Canonical Allele Identifier: CA409231040

Gene: PCIF1

Linked Data

• ClinVar Variation Id: 2326502
• ClinVar RCV Id: RCV004167677
• MyVariant Identifiers: chr20:g.44576076A>C (hg19) ; chr20:g.45947437A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947437A>C , CM000682.2:g.45947437A>C	GRCh38
NC_000020.10:g.44576076A>C , CM000682.1:g.44576076A>C	GRCh37
NC_000020.9:g.44009483A>C	NCBI36
NG_029772.1:g.29758T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.1882A>C MANE Select	ENSP00000361486.3:p.Lys628Gln
ENST00000372409.7:c.1882A>C	ENSP00000361486.3:p.Lys628Gln
ENST00000479348.2:c.738A>C
NM_022104.3:c.1882A>C	NP_071387.1:p.Lys628Gln
XM_011528980.1:c.1882A>C	XP_011527282.1:p.Lys628Gln
XM_011528981.1:c.1882A>C	XP_011527283.1:p.Lys628Gln
XM_011528982.1:c.838A>C	XP_011527284.1:p.Lys280Gln
XM_011528980.3:c.1882A>C	XP_011527282.1:p.Lys628Gln
XM_011528981.3:c.1882A>C	XP_011527283.1:p.Lys628Gln
XM_017028013.2:c.1882A>C	XP_016883502.1:p.Lys628Gln
XM_017028014.2:c.838A>C	XP_016883503.1:p.Lys280Gln
NM_022104.4:c.1882A>C MANE Select	NP_071387.1:p.Lys628Gln