Canonical Allele Identifier: CA1083679

Gene: PRUNE1

Linked Data

• dbSNP Id: rs748109297
• ExAC: 1:150990344 A / G
• gnomAD v2: 1-150990344-A-G
• gnomAD v4: 1-151017868-A-G
• COSMIC: COSM6459285
• MyVariant Identifiers: chr1:g.150990344A>G (hg19) ; chr1:g.151017868A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151017868A>G , CM000663.2:g.151017868A>G	GRCh38
NC_000001.10:g.150990344A>G , CM000663.1:g.150990344A>G	GRCh37
NC_000001.9:g.149256968A>G	NCBI36
NG_052875.1:g.14478A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000271620.8:c.96A>G MANE Select	ENSP00000271620.3:p.Thr32=
ENST00000650332.1:c.96A>G	ENSP00000497847.1:p.Thr32=
ENST00000271620.7:c.96A>G	ENSP00000271620.3:p.Thr32=
ENST00000368935.1:c.-54A>G	ENSP00000357931.1:n.-54A>G
ENST00000368936.5:c.-248A>G	ENSP00000357932.1:n.-248A>G
ENST00000368937.5:c.-26-7647A>G	ENSP00000357933.1:n.-26-7647A>G
ENST00000431193.5:c.-63A>G	ENSP00000392632.1:n.-63A>G
ENST00000450884.5:c.-211-6743A>G	ENSP00000387696.1:n.-211-6743A>G
ENST00000462440.5:n.279A>G
ENST00000467771.5:n.309A>G
ENST00000475722.5:n.262A>G
NM_001303229.1:c.-248A>G	NP_001290158.1:n.-248A>G
NM_001303242.1:c.96A>G	NP_001290171.1:p.Thr32=
NM_001303243.1:c.-164A>G	NP_001290172.1:n.-164A>G
NM_021222.2:c.96A>G	NP_067045.1:p.Thr32=
NR_130130.1:n.282-7647A>G
NR_130131.1:n.338A>G
NR_130132.1:n.338A>G
NR_130135.1:n.338A>G
XM_005245393.3:c.96A>G	XP_005245450.1:p.Thr32=
XM_005245397.3:c.-63A>G	XP_005245454.1:n.-63A>G
XM_011509830.1:c.96A>G	XP_011508132.1:p.Thr32=
XM_011509831.1:c.-74A>G	XP_011508133.1:n.-74A>G
XM_011509832.1:c.-211-6743A>G	XP_011508134.1:n.-211-6743A>G
XM_005245393.5:c.96A>G	XP_005245450.1:p.Thr32=
XM_011509832.2:c.-211-6743A>G	XP_011508134.1:n.-211-6743A>G
XM_017001955.2:c.96A>G	XP_016857444.1:p.Thr32=
XM_017001956.1:c.-63A>G	XP_016857445.1:n.-63A>G
XM_017001957.1:c.-74A>G	XP_016857446.1:n.-74A>G
NM_021222.3:c.96A>G MANE Select	NP_067045.1:p.Thr32=
NM_001303229.2:c.-248A>G	NP_001290158.1:n.-248A>G
NM_001303242.2:c.96A>G	NP_001290171.1:p.Thr32=
NM_001303243.2:c.-164A>G	NP_001290172.1:n.-164A>G
NR_130130.2:n.224-7647A>G
NR_130131.2:n.280A>G
NR_130132.2:n.280A>G
NR_130135.2:n.280A>G