Canonical Allele Identifier: CA354971673

Gene: MED12L P2RY12

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.151372653G>C , CM000665.2:g.151372653G>C	GRCh38
NC_000003.11:g.151090441G>C , CM000665.1:g.151090441G>C	GRCh37
NC_000003.10:g.152573131G>C	NCBI36
NG_016019.1:g.17104C>G , LRG_569:g.17104C>G
NG_021244.1:g.290766G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001393769.1:c.3751G>C (MED12L) MANE Select	NP_001380698.1:p.Asp1251His
NM_022788.5:c.-180+12039C>G (P2RY12) MANE Select	NP_073625.1:n.-180+12039C>G
ENST00000302632.4:c.-180+12039C>G (P2RY12) MANE Select	ENSP00000307259.4:n.-180+12039C>G
ENST00000687756.1:c.3751G>C (MED12L) MANE Select	ENSP00000508695.1:p.Asp1251His
NM_022788.4:c.-180+12039C>G , LRG_569t1:c.-180+12039C>G (P2RY12)	NP_073625.1:n.-180+12039C>G
NM_053002.5:c.3646G>C (MED12L)	NP_443728.3:p.Asp1216His
NM_053002.6:c.3646G>C (MED12L)	NP_443728.3:p.Asp1216His
ENST00000273432.8:c.3226G>C (MED12L)	ENSP00000273432.4:p.Asp1076His
ENST00000302632.3:c.-180+12039C>G (P2RY12)	ENSP00000307259.3:n.-180+12039C>G
ENST00000474524.5:c.3646G>C (MED12L)	ENSP00000417235.1:p.Asp1216His
ENST00000686666.1:c.3364G>C (MED12L)	ENSP00000509482.1:p.Asp1122His
XM_006713487.2:c.3751G>C (MED12L)	XP_006713550.1:p.Asp1251His
XM_006713487.3:c.3751G>C (MED12L)	XP_006713550.1:p.Asp1251His
XM_011512386.1:c.3751G>C (MED12L)	XP_011510688.1:p.Asp1251His
XM_011512387.1:c.3748G>C (MED12L)	XP_011510689.1:p.Asp1250His
XM_011512388.1:c.3751G>C (MED12L)	XP_011510690.1:p.Asp1251His
XM_011512389.1:c.3646G>C (MED12L)	XP_011510691.1:p.Asp1216His
XM_011512390.1:c.3646G>C (MED12L)	XP_011510692.1:p.Asp1216His
XM_011512390.2:c.3646G>C (MED12L)	XP_011510692.1:p.Asp1216His
XM_011512391.1:c.3481G>C (MED12L)	XP_011510693.1:p.Asp1161His
XM_011512392.1:c.3295G>C (MED12L)	XP_011510694.1:p.Asp1099His
XM_011512393.1:c.3751G>C (MED12L)	XP_011510695.1:p.Asp1251His
XM_011512394.1:c.3751G>C (MED12L)	XP_011510696.1:p.Asp1251His
XM_011512394.2:c.3751G>C (MED12L)	XP_011510696.1:p.Asp1251His
XM_011512395.1:c.3751G>C (MED12L)	XP_011510697.1:p.Asp1251His
XM_011512396.1:c.2176G>C (MED12L)	XP_011510698.1:p.Asp726His
XM_011512397.1:c.1618G>C (MED12L)	XP_011510699.1:p.Asp540His
XM_011512398.1:c.1546G>C (MED12L)	XP_011510700.1:p.Asp516His
XM_011512400.1:c.568G>C (MED12L)	XP_011510702.1:p.Asp190His
XM_017005676.1:c.3751G>C (MED12L)	XP_016861165.1:p.Asp1251His
XM_017005677.1:c.3748G>C (MED12L)	XP_016861166.1:p.Asp1250His
XM_017005678.1:c.3751G>C (MED12L)	XP_016861167.1:p.Asp1251His
XM_017005679.1:c.3481G>C (MED12L)	XP_016861168.1:p.Asp1161His
XM_017005680.1:c.3469G>C (MED12L)	XP_016861169.1:p.Asp1157His
XM_017005681.1:c.1138G>C (MED12L)	XP_016861170.1:p.Asp380His
XR_001740000.1:n.4152G>C (MED12L)