Canonical Allele Identifier: CA6422051

Gene: PTPN6

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6960696G>A , CM000674.2:g.6960696G>A	GRCh38
NC_000012.11:g.7069859G>A , CM000674.1:g.7069859G>A	GRCh37
NC_000012.10:g.6940120G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002831.6:c.1674-110G>A MANE Select	NP_002822.2:n.1674-110G>A
ENST00000318974.14:c.1674-110G>A MANE Select	ENSP00000326010.9:n.1674-110G>A
NM_002831.5:c.1674-110G>A	NP_002822.2:n.1674-110G>A
NM_080548.4:c.1680-110G>A	NP_536858.1:n.1680-110G>A
NM_080548.5:c.1680-110G>A	NP_536858.1:n.1680-110G>A
NM_080549.3:c.1707G>A	NP_536859.1:p.Ala569=
NM_080549.4:c.1707G>A	NP_536859.1:p.Ala569=
ENST00000318974.13:c.1674-110G>A	ENSP00000326010.9:n.1674-110G>A
ENST00000399448.5:c.1680-110G>A	ENSP00000382376.1:n.1680-110G>A
ENST00000416215.6:n.2082-110G>A
ENST00000456013.5:c.1707G>A	ENSP00000391592.1:p.Ala569=
ENST00000537533.1:n.343-110G>A
ENST00000539029.5:n.375-110G>A
XM_006718994.1:c.1332-110G>A	XP_006719057.1:n.1332-110G>A
XM_011520988.1:c.1680-110G>A	XP_011519290.1:n.1680-110G>A
XM_011520988.2:c.1680-110G>A	XP_011519290.1:n.1680-110G>A
XM_011520989.1:c.1563-110G>A	XP_011519291.1:n.1563-110G>A
XM_024449106.1:c.1674-110G>A	XP_024304874.1:n.1674-110G>A
XR_931520.1:n.1675-110G>A