Canonical Allele Identifier: CA385848500

Gene: PPP1R12A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.79806308C>T , CM000674.2:g.79806308C>T	GRCh38
NC_000012.11:g.80200088C>T , CM000674.1:g.80200088C>T	GRCh37
NC_000012.10:g.78724219C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002480.3:c.1681G>A MANE Select	NP_002471.1:p.Asp561Asn
ENST00000450142.7:c.1681G>A MANE Select	ENSP00000389168.2:p.Asp561Asn
NM_001143885.1:c.1681G>A	NP_001137357.1:p.Asp561Asn
NM_001143885.2:c.1681G>A	NP_001137357.1:p.Asp561Asn
NM_001143886.1:c.1420G>A	NP_001137358.1:p.Asp474Asn
NM_001143886.2:c.1420G>A	NP_001137358.1:p.Asp474Asn
NM_001244990.1:c.1681G>A	NP_001231919.1:p.Asp561Asn
NM_001244990.2:c.1681G>A	NP_001231919.1:p.Asp561Asn
NM_001244992.1:c.1656-540G>A	NP_001231921.1:n.1656-540G>A
NM_002480.2:c.1681G>A	NP_002471.1:p.Asp561Asn
ENST00000261207.9:c.1681G>A	ENSP00000261207.5:p.Asp561Asn
ENST00000437004.6:c.1681G>A	ENSP00000416769.2:p.Asp561Asn
ENST00000450142.6:c.1681G>A	ENSP00000389168.2:p.Asp561Asn
ENST00000546369.5:c.1420G>A	ENSP00000449514.1:p.Asp474Asn
ENST00000547131.1:c.740+918G>A	ENSP00000450061.1:n.740+918G>A
ENST00000547330.5:c.1681G>A	ENSP00000446816.1:p.Asp561Asn
ENST00000550107.5:c.1656-540G>A	ENSP00000446855.1:n.1656-540G>A
ENST00000553081.5:c.467-11G>A
ENST00000650220.1:c.684G>A
XM_005268887.2:c.1681G>A	XP_005268944.1:p.Asp561Asn
XM_005268887.4:c.1681G>A	XP_005268944.1:p.Asp561Asn
XM_011538374.1:c.1798G>A	XP_011536676.1:p.Asp600Asn
XM_011538374.2:c.1798G>A	XP_011536676.1:p.Asp600Asn
XM_011538375.1:c.1773-11G>A	XP_011536677.1:n.1773-11G>A
XM_011538375.2:c.1773-11G>A	XP_011536677.1:n.1773-11G>A
XM_011538376.1:c.1798G>A	XP_011536678.1:p.Asp600Asn
XM_011538376.3:c.1798G>A	XP_011536678.1:p.Asp600Asn
XM_011538377.1:c.1723G>A	XP_011536679.1:p.Asp575Asn
XM_011538377.2:c.1723G>A	XP_011536679.1:p.Asp575Asn
XM_011538378.1:c.1798G>A	XP_011536680.1:p.Asp600Asn
XM_011538378.3:c.1798G>A	XP_011536680.1:p.Asp600Asn
XM_011538379.1:c.1773-540G>A	XP_011536681.1:n.1773-540G>A
XM_011538379.2:c.1773-540G>A	XP_011536681.1:n.1773-540G>A
XM_011538380.1:c.1798G>A	XP_011536682.1:p.Asp600Asn
XM_011538380.2:c.1798G>A	XP_011536682.1:p.Asp600Asn
XM_011538381.1:c.1537G>A	XP_011536683.1:p.Asp513Asn
XM_011538382.1:c.1798G>A	XP_011536684.1:p.Asp600Asn
XM_011538383.1:c.1681G>A	XP_011536685.1:p.Asp561Asn
XM_011538383.3:c.1681G>A	XP_011536685.1:p.Asp561Asn
XM_011538384.1:c.1772+918G>A	XP_011536686.1:n.1772+918G>A
XM_011538384.2:c.1772+918G>A	XP_011536686.1:n.1772+918G>A
XM_011538385.1:c.1655+918G>A	XP_011536687.1:n.1655+918G>A
XM_011538385.2:c.1655+918G>A	XP_011536687.1:n.1655+918G>A
XM_017019323.2:c.1656-11G>A	XP_016874812.1:n.1656-11G>A
XM_017019324.2:c.1606G>A	XP_016874813.1:p.Asp536Asn
XM_017019325.2:c.1581-11G>A	XP_016874814.1:n.1581-11G>A
XM_017019326.2:c.1656-11G>A	XP_016874815.1:n.1656-11G>A
XM_017019327.2:c.1656-540G>A	XP_016874816.1:n.1656-540G>A
XM_017019328.2:c.1581-540G>A	XP_016874817.1:n.1581-540G>A
XM_017019329.2:c.1606G>A	XP_016874818.1:p.Asp536Asn
XM_017019330.2:c.1798G>A	XP_016874819.1:p.Asp600Asn
XR_001748712.2:n.1799G>A
XR_001748713.2:n.1799G>A
XR_944554.1:n.2054G>A