Canonical Allele Identifier: CA341903273

Gene: PRUNE1

Linked Data

• ClinVar Variation Id: 2107817
• ClinVar RCV Id: RCV003033830
• MyVariant Identifiers: chr1:g.150990980A>G (hg19) ; chr1:g.151018504A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151018504A>G , CM000663.2:g.151018504A>G	GRCh38
NC_000001.10:g.150990980A>G , CM000663.1:g.150990980A>G	GRCh37
NC_000001.9:g.149257604A>G	NCBI36
NG_052875.1:g.15114A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000271620.8:c.170A>G MANE Select	ENSP00000271620.3:p.Asn57Ser
ENST00000650332.1:c.133-53A>G	ENSP00000497847.1:n.133-53A>G
ENST00000271620.7:c.170A>G	ENSP00000271620.3:p.Asn57Ser
ENST00000368935.1:c.-18+600A>G	ENSP00000357931.1:n.-18+600A>G
ENST00000368936.5:c.-212+600A>G	ENSP00000357932.1:n.-212+600A>G
ENST00000368937.5:c.-26-7011A>G	ENSP00000357933.1:n.-26-7011A>G
ENST00000431193.5:c.-27+600A>G	ENSP00000392632.1:n.-27+600A>G
ENST00000450884.5:c.-211-6107A>G	ENSP00000387696.1:n.-211-6107A>G
ENST00000462440.5:n.316-53A>G
ENST00000467771.5:n.346-53A>G
ENST00000475722.5:n.336A>G
NM_001303229.1:c.-212+600A>G	NP_001290158.1:n.-212+600A>G
NM_001303242.1:c.170A>G	NP_001290171.1:p.Asn57Ser
NM_001303243.1:c.-90A>G	NP_001290172.1:n.-90A>G
NM_021222.2:c.170A>G	NP_067045.1:p.Asn57Ser
NR_130130.1:n.282-7011A>G
NR_130131.1:n.374+600A>G
NR_130132.1:n.374+600A>G
NR_130135.1:n.374+600A>G
XM_005245393.3:c.133-53A>G	XP_005245450.1:n.133-53A>G
XM_005245397.3:c.-27+600A>G	XP_005245454.1:n.-27+600A>G
XM_011509830.1:c.170A>G	XP_011508132.1:p.Asn57Ser
XM_011509831.1:c.-37-53A>G	XP_011508133.1:n.-37-53A>G
XM_011509832.1:c.-211-6107A>G	XP_011508134.1:n.-211-6107A>G
XM_005245393.5:c.133-53A>G	XP_005245450.1:n.133-53A>G
XM_011509832.2:c.-211-6107A>G	XP_011508134.1:n.-211-6107A>G
XM_017001955.2:c.133-53A>G	XP_016857444.1:n.133-53A>G
XM_017001956.1:c.-27+600A>G	XP_016857445.1:n.-27+600A>G
XM_017001957.1:c.-37-53A>G	XP_016857446.1:n.-37-53A>G
NM_021222.3:c.170A>G MANE Select	NP_067045.1:p.Asn57Ser
NM_001303229.2:c.-212+600A>G	NP_001290158.1:n.-212+600A>G
NM_001303242.2:c.170A>G	NP_001290171.1:p.Asn57Ser
NM_001303243.2:c.-90A>G	NP_001290172.1:n.-90A>G
NR_130130.2:n.224-7011A>G
NR_130131.2:n.316+600A>G
NR_130132.2:n.316+600A>G
NR_130135.2:n.316+600A>G