Canonical Allele Identifier: CA2667027
Gene: MED12L HGNC NCBI
GPR171 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.151199372C>T , CM000665.2:g.151199372C>T GRCh38
NC_000003.11:g.150917159C>T , CM000665.1:g.150917159C>T GRCh37
NC_000003.10:g.152399849C>T NCBI36
NG_021244.1:g.117484C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000685357.1:n.2508+5706C>T (MED12L)
ENST00000686666.1:c.1863+8441C>T (MED12L) ENSP00000509482.1:n.1863+8441C>T
ENST00000687756.1:c.2250+5706C>T (MED12L) MANE Select ENSP00000508695.1:n.2250+5706C>T
ENST00000688234.1:c.2250+5706C>T (MED12L) ENSP00000509197.1:n.2250+5706C>T
ENST00000693531.1:n.2325+5706C>T (MED12L)
ENST00000309180.6:c.15G>A (GPR171) MANE Select ENSP00000308479.5:p.Ser5=
ENST00000273432.8:c.1725+5706C>T (MED12L) ENSP00000273432.4:n.1725+5706C>T
ENST00000309180.5:c.15G>A (GPR171) ENSP00000308479.5:p.Ser5=
ENST00000474524.5:c.2145+5706C>T (MED12L) ENSP00000417235.1:n.2145+5706C>T
ENST00000480026.1:c.193+5706C>T (MED12L)
ENST00000480322.1:c.15G>A (GPR171) ENSP00000420109.1:p.Ser5=
ENST00000617554.1:c.15G>A (GPR171) ENSP00000482588.1:p.Ser5=
NM_013308.3:c.15G>A (GPR171) NP_037440.3:p.Ser5=
NM_053002.5:c.2145+5706C>T (MED12L) NP_443728.3:n.2145+5706C>T
XM_005247402.2:c.15G>A (GPR171) XP_005247459.1:p.Ser5=
XM_005247403.2:c.15G>A (GPR171) XP_005247460.1:p.Ser5=
XM_006713487.2:c.2250+5706C>T (MED12L) XP_006713550.1:n.2250+5706C>T
XM_011512386.1:c.2250+5706C>T (MED12L) XP_011510688.1:n.2250+5706C>T
XM_011512387.1:c.2250+5706C>T (MED12L) XP_011510689.1:n.2250+5706C>T
XM_011512388.1:c.2250+5706C>T (MED12L) XP_011510690.1:n.2250+5706C>T
XM_011512389.1:c.2145+5706C>T (MED12L) XP_011510691.1:n.2145+5706C>T
XM_011512390.1:c.2145+5706C>T (MED12L) XP_011510692.1:n.2145+5706C>T
XM_011512391.1:c.1980+5706C>T (MED12L) XP_011510693.1:n.1980+5706C>T
XM_011512392.1:c.1794+5706C>T (MED12L) XP_011510694.1:n.1794+5706C>T
XM_011512393.1:c.2250+5706C>T (MED12L) XP_011510695.1:n.2250+5706C>T
XM_011512394.1:c.2250+5706C>T (MED12L) XP_011510696.1:n.2250+5706C>T
XM_011512395.1:c.2250+5706C>T (MED12L) XP_011510697.1:n.2250+5706C>T
XM_011512396.1:c.675+5706C>T (MED12L) XP_011510698.1:n.675+5706C>T
XM_011512399.1:c.2250+5706C>T (MED12L) XP_011510701.1:n.2250+5706C>T
XM_005247402.3:c.15G>A (GPR171) XP_005247459.1:p.Ser5=
XM_005247403.3:c.15G>A (GPR171) XP_005247460.1:p.Ser5=
XM_006713487.3:c.2250+5706C>T (MED12L) XP_006713550.1:n.2250+5706C>T
XM_011512390.2:c.2145+5706C>T (MED12L) XP_011510692.1:n.2145+5706C>T
XM_011512394.2:c.2250+5706C>T (MED12L) XP_011510696.1:n.2250+5706C>T
XM_011512399.3:c.2250+5706C>T (MED12L) XP_011510701.1:n.2250+5706C>T
XM_017005676.1:c.2250+5706C>T (MED12L) XP_016861165.1:n.2250+5706C>T
XM_017005677.1:c.2250+5706C>T (MED12L) XP_016861166.1:n.2250+5706C>T
XM_017005678.1:c.2250+5706C>T (MED12L) XP_016861167.1:n.2250+5706C>T
XM_017005679.1:c.1980+5706C>T (MED12L) XP_016861168.1:n.1980+5706C>T
XM_017005680.1:c.1968+8441C>T (MED12L) XP_016861169.1:n.1968+8441C>T
XM_017006274.1:c.15G>A (GPR171) XP_016861763.1:p.Ser5=
XR_001740000.1:n.2651+5706C>T (MED12L)
NM_013308.4:c.15G>A (GPR171) MANE Select NP_037440.3:p.Ser5=
NM_001393769.1:c.2250+5706C>T (MED12L) MANE Select NP_001380698.1:n.2250+5706C>T
NM_053002.6:c.2145+5706C>T (MED12L) NP_443728.3:n.2145+5706C>T