Canonical Allele Identifier: CA1944012122

Gene: PTPRE

Linked Data

• dbSNP Id: rs1846928659
• gnomAD v3: 10-127925402-T-C
• gnomAD v4: 10-127925402-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.127925402T>C , CM000672.2:g.127925402T>C	GRCh38
NC_000010.10:g.129723666T>C , CM000672.1:g.129723666T>C	GRCh37
NC_000010.9:g.129613656T>C	NCBI36
NG_029511.1:g.23342T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000254667.8:c.-31+18093T>C MANE Select	ENSP00000254667.3:n.-31+18093T>C
ENST00000254667.7:c.-31+18093T>C	ENSP00000254667.3:n.-31+18093T>C
ENST00000442830.5:c.-202+18093T>C	ENSP00000410540.1:n.-202+18093T>C
NM_001316676.1:c.-169+18093T>C	NP_001303605.1:n.-169+18093T>C
NM_006504.4:c.-31+18093T>C	NP_006495.1:n.-31+18093T>C
NM_006504.5:c.-31+18093T>C	NP_006495.1:n.-31+18093T>C
XM_011539993.1:c.53+18093T>C	XP_011538295.1:n.53+18093T>C
XM_011539994.1:c.53+18093T>C	XP_011538296.1:n.53+18093T>C
XM_011539995.1:c.53+18093T>C	XP_011538297.1:n.53+18093T>C
XM_011539996.1:c.53+18093T>C	XP_011538298.1:n.53+18093T>C
XM_011539998.1:c.53+18093T>C	XP_011538300.1:n.53+18093T>C
XR_945793.1:n.234+18093T>C
NM_001323355.1:c.53+18093T>C	NP_001310284.1:n.53+18093T>C
NM_001323356.1:c.53+18093T>C	NP_001310285.1:n.53+18093T>C
XM_011539994.2:c.53+18093T>C	XP_011538296.1:n.53+18093T>C
XM_017016467.1:c.53+18093T>C	XP_016871956.1:n.53+18093T>C
XM_017016468.2:c.-31+18093T>C	XP_016871957.1:n.-31+18093T>C
XM_017016469.2:c.53+18093T>C	XP_016871958.1:n.53+18093T>C
XM_024448092.1:c.-93-5576T>C	XP_024303860.1:n.-93-5576T>C
XR_002956995.1:n.234+18093T>C
NM_001316676.2:c.-169+18093T>C	NP_001303605.1:n.-169+18093T>C
NM_001323355.2:c.53+18093T>C	NP_001310284.1:n.53+18093T>C
NM_001323356.2:c.53+18093T>C	NP_001310285.1:n.53+18093T>C
NM_006504.6:c.-31+18093T>C MANE Select	NP_006495.1:n.-31+18093T>C