Canonical Allele Identifier: CA354969125

Gene: MED12L P2RY12

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.151365198T>A , CM000665.2:g.151365198T>A	GRCh38
NC_000003.11:g.151082986T>A , CM000665.1:g.151082986T>A	GRCh37
NC_000003.10:g.152565676T>A	NCBI36
NG_016019.1:g.24559A>T , LRG_569:g.24559A>T
NG_021244.1:g.283311T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001393769.1:c.3177T>A (MED12L) MANE Select	NP_001380698.1:p.Asp1059Glu
NM_022788.5:c.-180+19494A>T (P2RY12) MANE Select	NP_073625.1:n.-180+19494A>T
ENST00000302632.4:c.-180+19494A>T (P2RY12) MANE Select	ENSP00000307259.4:n.-180+19494A>T
ENST00000687756.1:c.3177T>A (MED12L) MANE Select	ENSP00000508695.1:p.Asp1059Glu
NM_022788.4:c.-180+19494A>T , LRG_569t1:c.-180+19494A>T (P2RY12)	NP_073625.1:n.-180+19494A>T
NM_053002.5:c.3072T>A (MED12L)	NP_443728.3:p.Asp1024Glu
NM_053002.6:c.3072T>A (MED12L)	NP_443728.3:p.Asp1024Glu
ENST00000273432.8:c.2652T>A (MED12L)	ENSP00000273432.4:p.Asp884Glu
ENST00000302632.3:c.-180+19494A>T (P2RY12)	ENSP00000307259.3:n.-180+19494A>T
ENST00000474524.5:c.3072T>A (MED12L)	ENSP00000417235.1:p.Asp1024Glu
ENST00000686666.1:c.2790T>A (MED12L)	ENSP00000509482.1:p.Asp930Glu
XM_006713487.2:c.3177T>A (MED12L)	XP_006713550.1:p.Asp1059Glu
XM_006713487.3:c.3177T>A (MED12L)	XP_006713550.1:p.Asp1059Glu
XM_011512386.1:c.3177T>A (MED12L)	XP_011510688.1:p.Asp1059Glu
XM_011512387.1:c.3174T>A (MED12L)	XP_011510689.1:p.Asp1058Glu
XM_011512388.1:c.3177T>A (MED12L)	XP_011510690.1:p.Asp1059Glu
XM_011512389.1:c.3072T>A (MED12L)	XP_011510691.1:p.Asp1024Glu
XM_011512390.1:c.3072T>A (MED12L)	XP_011510692.1:p.Asp1024Glu
XM_011512390.2:c.3072T>A (MED12L)	XP_011510692.1:p.Asp1024Glu
XM_011512391.1:c.2907T>A (MED12L)	XP_011510693.1:p.Asp969Glu
XM_011512392.1:c.2721T>A (MED12L)	XP_011510694.1:p.Asp907Glu
XM_011512393.1:c.3177T>A (MED12L)	XP_011510695.1:p.Asp1059Glu
XM_011512394.1:c.3177T>A (MED12L)	XP_011510696.1:p.Asp1059Glu
XM_011512394.2:c.3177T>A (MED12L)	XP_011510696.1:p.Asp1059Glu
XM_011512395.1:c.3177T>A (MED12L)	XP_011510697.1:p.Asp1059Glu
XM_011512396.1:c.1602T>A (MED12L)	XP_011510698.1:p.Asp534Glu
XM_011512397.1:c.1044T>A (MED12L)	XP_011510699.1:p.Asp348Glu
XM_011512398.1:c.972T>A (MED12L)	XP_011510700.1:p.Asp324Glu
XM_011512399.1:c.3177T>A (MED12L)	XP_011510701.1:p.Asp1059Glu
XM_011512399.3:c.3177T>A (MED12L)	XP_011510701.1:p.Asp1059Glu
XM_011512400.1:c.2+21T>A (MED12L)	XP_011510702.1:n.2+21T>A
XM_017005676.1:c.3177T>A (MED12L)	XP_016861165.1:p.Asp1059Glu
XM_017005677.1:c.3174T>A (MED12L)	XP_016861166.1:p.Asp1058Glu
XM_017005678.1:c.3177T>A (MED12L)	XP_016861167.1:p.Asp1059Glu
XM_017005679.1:c.2907T>A (MED12L)	XP_016861168.1:p.Asp969Glu
XM_017005680.1:c.2895T>A (MED12L)	XP_016861169.1:p.Asp965Glu
XM_017005681.1:c.564T>A (MED12L)	XP_016861170.1:p.Asp188Glu
XR_001740000.1:n.3578T>A (MED12L)