Canonical Allele Identifier: CA9884683

Gene: PCIF1

Linked Data

• dbSNP Id: rs758872414
• ExAC: 20:44576351 C / T
• gnomAD v2: 20-44576351-C-T
• gnomAD v4: 20-45947712-C-T
• COSMIC: COSM3294086
• MyVariant Identifiers: chr20:g.44576351C>T (hg19) ; chr20:g.45947712C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947712C>T , CM000682.2:g.45947712C>T	GRCh38
NC_000020.10:g.44576351C>T , CM000682.1:g.44576351C>T	GRCh37
NC_000020.9:g.44009758C>T	NCBI36
NG_029772.1:g.29483G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.2072C>T MANE Select	ENSP00000361486.3:p.Ser691Leu
ENST00000372409.7:c.2072C>T	ENSP00000361486.3:p.Ser691Leu
ENST00000479348.2:c.1013C>T
NM_022104.3:c.2072C>T	NP_071387.1:p.Ser691Leu
XM_011528980.1:c.2072C>T	XP_011527282.1:p.Ser691Leu
XM_011528981.1:c.2072C>T	XP_011527283.1:p.Ser691Leu
XM_011528982.1:c.1028C>T	XP_011527284.1:p.Ser343Leu
XM_011528980.3:c.2072C>T	XP_011527282.1:p.Ser691Leu
XM_011528981.3:c.2072C>T	XP_011527283.1:p.Ser691Leu
XM_017028013.2:c.2072C>T	XP_016883502.1:p.Ser691Leu
XM_017028014.2:c.1028C>T	XP_016883503.1:p.Ser343Leu
NM_022104.4:c.2072C>T MANE Select	NP_071387.1:p.Ser691Leu