Canonical Allele Identifier: CA341902942

Gene: PRUNE1

Linked Data

• gnomAD v4: 1-151017867-C-T
• MyVariant Identifiers: chr1:g.150990343C>T (hg19) ; chr1:g.151017867C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151017867C>T , CM000663.2:g.151017867C>T	GRCh38
NC_000001.10:g.150990343C>T , CM000663.1:g.150990343C>T	GRCh37
NC_000001.9:g.149256967C>T	NCBI36
NG_052875.1:g.14477C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000271620.8:c.95C>T MANE Select	ENSP00000271620.3:p.Thr32Ile
ENST00000650332.1:c.95C>T	ENSP00000497847.1:p.Thr32Ile
ENST00000271620.7:c.95C>T	ENSP00000271620.3:p.Thr32Ile
ENST00000368935.1:c.-55C>T	ENSP00000357931.1:n.-55C>T
ENST00000368936.5:c.-249C>T	ENSP00000357932.1:n.-249C>T
ENST00000368937.5:c.-26-7648C>T	ENSP00000357933.1:n.-26-7648C>T
ENST00000431193.5:c.-64C>T	ENSP00000392632.1:n.-64C>T
ENST00000450884.5:c.-211-6744C>T	ENSP00000387696.1:n.-211-6744C>T
ENST00000462440.5:n.278C>T
ENST00000467771.5:n.308C>T
ENST00000475722.5:n.261C>T
NM_001303229.1:c.-249C>T	NP_001290158.1:n.-249C>T
NM_001303242.1:c.95C>T	NP_001290171.1:p.Thr32Ile
NM_001303243.1:c.-165C>T	NP_001290172.1:n.-165C>T
NM_021222.2:c.95C>T	NP_067045.1:p.Thr32Ile
NR_130130.1:n.282-7648C>T
NR_130131.1:n.337C>T
NR_130132.1:n.337C>T
NR_130135.1:n.337C>T
XM_005245393.3:c.95C>T	XP_005245450.1:p.Thr32Ile
XM_005245397.3:c.-64C>T	XP_005245454.1:n.-64C>T
XM_011509830.1:c.95C>T	XP_011508132.1:p.Thr32Ile
XM_011509831.1:c.-75C>T	XP_011508133.1:n.-75C>T
XM_011509832.1:c.-211-6744C>T	XP_011508134.1:n.-211-6744C>T
XM_005245393.5:c.95C>T	XP_005245450.1:p.Thr32Ile
XM_011509832.2:c.-211-6744C>T	XP_011508134.1:n.-211-6744C>T
XM_017001955.2:c.95C>T	XP_016857444.1:p.Thr32Ile
XM_017001956.1:c.-64C>T	XP_016857445.1:n.-64C>T
XM_017001957.1:c.-75C>T	XP_016857446.1:n.-75C>T
NM_021222.3:c.95C>T MANE Select	NP_067045.1:p.Thr32Ile
NM_001303229.2:c.-249C>T	NP_001290158.1:n.-249C>T
NM_001303242.2:c.95C>T	NP_001290171.1:p.Thr32Ile
NM_001303243.2:c.-165C>T	NP_001290172.1:n.-165C>T
NR_130130.2:n.224-7648C>T
NR_130131.2:n.279C>T
NR_130132.2:n.279C>T
NR_130135.2:n.279C>T