Canonical Allele Identifier: CA1083678

Gene: PRUNE1

Linked Data

• dbSNP Id: rs780609846
• ExAC: 1:150990341 C / T
• gnomAD v2: 1-150990341-C-T
• MyVariant Identifiers: chr1:g.150990341C>T (hg19) ; chr1:g.151017865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151017865C>T , CM000663.2:g.151017865C>T	GRCh38
NC_000001.10:g.150990341C>T , CM000663.1:g.150990341C>T	GRCh37
NC_000001.9:g.149256965C>T	NCBI36
NG_052875.1:g.14475C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000271620.8:c.93C>T MANE Select	ENSP00000271620.3:p.Ser31=
ENST00000650332.1:c.93C>T	ENSP00000497847.1:p.Ser31=
ENST00000271620.7:c.93C>T	ENSP00000271620.3:p.Ser31=
ENST00000368935.1:c.-57C>T	ENSP00000357931.1:n.-57C>T
ENST00000368936.5:c.-251C>T	ENSP00000357932.1:n.-251C>T
ENST00000368937.5:c.-26-7650C>T	ENSP00000357933.1:n.-26-7650C>T
ENST00000431193.5:c.-66C>T	ENSP00000392632.1:n.-66C>T
ENST00000450884.5:c.-211-6746C>T	ENSP00000387696.1:n.-211-6746C>T
ENST00000462440.5:n.276C>T
ENST00000467771.5:n.306C>T
ENST00000475722.5:n.259C>T
NM_001303229.1:c.-251C>T	NP_001290158.1:n.-251C>T
NM_001303242.1:c.93C>T	NP_001290171.1:p.Ser31=
NM_001303243.1:c.-167C>T	NP_001290172.1:n.-167C>T
NM_021222.2:c.93C>T	NP_067045.1:p.Ser31=
NR_130130.1:n.282-7650C>T
NR_130131.1:n.335C>T
NR_130132.1:n.335C>T
NR_130135.1:n.335C>T
XM_005245393.3:c.93C>T	XP_005245450.1:p.Ser31=
XM_005245397.3:c.-66C>T	XP_005245454.1:n.-66C>T
XM_011509830.1:c.93C>T	XP_011508132.1:p.Ser31=
XM_011509831.1:c.-77C>T	XP_011508133.1:n.-77C>T
XM_011509832.1:c.-211-6746C>T	XP_011508134.1:n.-211-6746C>T
XM_005245393.5:c.93C>T	XP_005245450.1:p.Ser31=
XM_011509832.2:c.-211-6746C>T	XP_011508134.1:n.-211-6746C>T
XM_017001955.2:c.93C>T	XP_016857444.1:p.Ser31=
XM_017001956.1:c.-66C>T	XP_016857445.1:n.-66C>T
XM_017001957.1:c.-77C>T	XP_016857446.1:n.-77C>T
NM_021222.3:c.93C>T MANE Select	NP_067045.1:p.Ser31=
NM_001303229.2:c.-251C>T	NP_001290158.1:n.-251C>T
NM_001303242.2:c.93C>T	NP_001290171.1:p.Ser31=
NM_001303243.2:c.-167C>T	NP_001290172.1:n.-167C>T
NR_130130.2:n.224-7650C>T
NR_130131.2:n.277C>T
NR_130132.2:n.277C>T
NR_130135.2:n.277C>T