Canonical Allele Identifier: CA385934370
Gene: PPP1R12A HGNC NCBI
PPP1R12A-AS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.79775976C>T , CM000674.2:g.79775976C>T GRCh38
NC_000012.11:g.80169756C>T , CM000674.1:g.80169756C>T GRCh37
NC_000012.10:g.78693887C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002480.3:c.3046G>A (PPP1R12A) MANE Select NP_002471.1:p.Asp1016Asn
ENST00000450142.7:c.3046G>A (PPP1R12A) MANE Select ENSP00000389168.2:p.Asp1016Asn
NM_001143885.1:c.3046G>A (PPP1R12A) NP_001137357.1:p.Asp1016Asn
NM_001143885.2:c.3046G>A (PPP1R12A) NP_001137357.1:p.Asp1016Asn
NM_001143886.1:c.2785G>A (PPP1R12A) NP_001137358.1:p.Asp929Asn
NM_001143886.2:c.2785G>A (PPP1R12A) NP_001137358.1:p.Asp929Asn
NM_001244990.1:c.2941G>A (PPP1R12A) NP_001231919.1:p.Asp981Asn
NM_001244990.2:c.2941G>A (PPP1R12A) NP_001231919.1:p.Asp981Asn
NM_001244992.1:c.2878G>A (PPP1R12A) NP_001231921.1:p.Asp960Asn
NM_002480.2:c.3046G>A (PPP1R12A) NP_002471.1:p.Asp1016Asn
ENST00000261207.9:c.3046G>A (PPP1R12A) ENSP00000261207.5:p.Asp1016Asn
ENST00000437004.6:c.2941G>A (PPP1R12A) ENSP00000416769.2:p.Asp981Asn
ENST00000450142.6:c.3046G>A (PPP1R12A) ENSP00000389168.2:p.Asp1016Asn
ENST00000546369.5:c.2785G>A (PPP1R12A) ENSP00000449514.1:p.Asp929Asn
ENST00000546762.5:c.822G>A (PPP1R12A)
ENST00000547253.5:n.618G>A (PPP1R12A)
ENST00000548908.2:n.3021G>A (PPP1R12A)
ENST00000548908.3:n.3019G>A (PPP1R12A)
ENST00000550107.5:c.2878G>A (PPP1R12A) ENSP00000446855.1:p.Asp960Asn
ENST00000550299.5:c.625G>A (PPP1R12A)
ENST00000550351.5:n.680G>A (PPP1R12A)
ENST00000550903.5:c.897G>A (PPP1R12A) ENSP00000449647.1:n.897G>A
ENST00000552892.1:n.2236G>A (PPP1R12A)
ENST00000634739.1:c.362G>A (PPP1R12A) ENSP00000489242.1:n.362G>A
XM_005268887.2:c.*59G>A (PPP1R12A) XP_005268944.1:n.*59G>A
XM_005268887.4:c.*59G>A (PPP1R12A) XP_005268944.1:n.*59G>A
XM_011538374.1:c.3163G>A (PPP1R12A) XP_011536676.1:p.Asp1055Asn
XM_011538374.2:c.3163G>A (PPP1R12A) XP_011536676.1:p.Asp1055Asn
XM_011538375.1:c.3127G>A (PPP1R12A) XP_011536677.1:p.Asp1043Asn
XM_011538375.2:c.3127G>A (PPP1R12A) XP_011536677.1:p.Asp1043Asn
XM_011538376.1:c.*59G>A (PPP1R12A) XP_011536678.1:n.*59G>A
XM_011538376.3:c.*59G>A (PPP1R12A) XP_011536678.1:n.*59G>A
XM_011538377.1:c.3088G>A (PPP1R12A) XP_011536679.1:p.Asp1030Asn
XM_011538377.2:c.3088G>A (PPP1R12A) XP_011536679.1:p.Asp1030Asn
XM_011538378.1:c.*59G>A (PPP1R12A) XP_011536680.1:n.*59G>A
XM_011538378.3:c.*59G>A (PPP1R12A) XP_011536680.1:n.*59G>A
XM_011538379.1:c.2995G>A (PPP1R12A) XP_011536681.1:p.Asp999Asn
XM_011538379.2:c.2995G>A (PPP1R12A) XP_011536681.1:p.Asp999Asn
XM_011538380.1:c.2986G>A (PPP1R12A) XP_011536682.1:p.Asp996Asn
XM_011538380.2:c.2986G>A (PPP1R12A) XP_011536682.1:p.Asp996Asn
XM_011538381.1:c.2902G>A (PPP1R12A) XP_011536683.1:p.Asp968Asn
XM_011538383.1:c.2869G>A (PPP1R12A) XP_011536685.1:p.Asp957Asn
XM_011538383.3:c.2869G>A (PPP1R12A) XP_011536685.1:p.Asp957Asn
XM_011538384.1:c.2818G>A (PPP1R12A) XP_011536686.1:p.Asp940Asn
XM_011538384.2:c.2818G>A (PPP1R12A) XP_011536686.1:p.Asp940Asn
XM_011538385.1:c.2701G>A (PPP1R12A) XP_011536687.1:p.Asp901Asn
XM_011538385.2:c.2701G>A (PPP1R12A) XP_011536687.1:p.Asp901Asn
XM_017019323.2:c.3010G>A (PPP1R12A) XP_016874812.1:p.Asp1004Asn
XM_017019324.2:c.2971G>A (PPP1R12A) XP_016874813.1:p.Asp991Asn
XM_017019325.2:c.2935G>A (PPP1R12A) XP_016874814.1:p.Asp979Asn
XM_017019326.2:c.2833G>A (PPP1R12A) XP_016874815.1:p.Asp945Asn
XM_017019327.2:c.*59G>A (PPP1R12A) XP_016874816.1:n.*59G>A
XM_017019328.2:c.2803G>A (PPP1R12A) XP_016874817.1:p.Asp935Asn
XM_017019329.2:c.2794G>A (PPP1R12A) XP_016874818.1:p.Asp932Asn
XR_944554.1:n.3502G>A (PPP1R12A)
XR_945137.1:n.557-2375C>T (PPP1R12A-AS2)
XR_945137.3:n.567-2375C>T (PPP1R12A-AS2)
XR_945138.1:n.637-2375C>T (PPP1R12A-AS2)