Canonical Allele Identifier: CA341902926

Gene: PRUNE1

Linked Data

• gnomAD v4: 1-151017863-T-C
• MyVariant Identifiers: chr1:g.150990339T>C (hg19) ; chr1:g.151017863T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151017863T>C , CM000663.2:g.151017863T>C	GRCh38
NC_000001.10:g.150990339T>C , CM000663.1:g.150990339T>C	GRCh37
NC_000001.9:g.149256963T>C	NCBI36
NG_052875.1:g.14473T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000271620.8:c.91T>C MANE Select	ENSP00000271620.3:p.Ser31Pro
ENST00000650332.1:c.91T>C	ENSP00000497847.1:p.Ser31Pro
ENST00000271620.7:c.91T>C	ENSP00000271620.3:p.Ser31Pro
ENST00000368935.1:c.-59T>C	ENSP00000357931.1:n.-59T>C
ENST00000368936.5:c.-253T>C	ENSP00000357932.1:n.-253T>C
ENST00000368937.5:c.-26-7652T>C	ENSP00000357933.1:n.-26-7652T>C
ENST00000431193.5:c.-68T>C	ENSP00000392632.1:n.-68T>C
ENST00000450884.5:c.-211-6748T>C	ENSP00000387696.1:n.-211-6748T>C
ENST00000462440.5:n.274T>C
ENST00000467771.5:n.304T>C
ENST00000475722.5:n.257T>C
NM_001303229.1:c.-253T>C	NP_001290158.1:n.-253T>C
NM_001303242.1:c.91T>C	NP_001290171.1:p.Ser31Pro
NM_001303243.1:c.-169T>C	NP_001290172.1:n.-169T>C
NM_021222.2:c.91T>C	NP_067045.1:p.Ser31Pro
NR_130130.1:n.282-7652T>C
NR_130131.1:n.333T>C
NR_130132.1:n.333T>C
NR_130135.1:n.333T>C
XM_005245393.3:c.91T>C	XP_005245450.1:p.Ser31Pro
XM_005245397.3:c.-68T>C	XP_005245454.1:n.-68T>C
XM_011509830.1:c.91T>C	XP_011508132.1:p.Ser31Pro
XM_011509831.1:c.-79T>C	XP_011508133.1:n.-79T>C
XM_011509832.1:c.-211-6748T>C	XP_011508134.1:n.-211-6748T>C
XM_005245393.5:c.91T>C	XP_005245450.1:p.Ser31Pro
XM_011509832.2:c.-211-6748T>C	XP_011508134.1:n.-211-6748T>C
XM_017001955.2:c.91T>C	XP_016857444.1:p.Ser31Pro
XM_017001956.1:c.-68T>C	XP_016857445.1:n.-68T>C
XM_017001957.1:c.-79T>C	XP_016857446.1:n.-79T>C
NM_021222.3:c.91T>C MANE Select	NP_067045.1:p.Ser31Pro
NM_001303229.2:c.-253T>C	NP_001290158.1:n.-253T>C
NM_001303242.2:c.91T>C	NP_001290171.1:p.Ser31Pro
NM_001303243.2:c.-169T>C	NP_001290172.1:n.-169T>C
NR_130130.2:n.224-7652T>C
NR_130131.2:n.275T>C
NR_130132.2:n.275T>C
NR_130135.2:n.275T>C