Canonical Allele Identifier: CA413525915
Gene: MED12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2882760
ClinVar RCV Id: RCV003763555

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71132176C>T , CM000685.2:g.71132176C>T GRCh38
NC_000023.10:g.70352026C>T , CM000685.1:g.70352026C>T GRCh37
NC_000023.9:g.70268751C>T NCBI36
NG_012808.1:g.18621C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333646.11:c.4103C>T ENSP00000333125.8:p.Pro1368Leu
ENST00000374102.6:c.4223C>T ENSP00000363215.2:p.Pro1408Leu
ENST00000685182.1:n.856C>T
ENST00000685655.1:c.176C>T ENSP00000509298.1:p.Pro59Leu
ENST00000686169.1:n.600C>T
ENST00000686548.1:c.*4119C>T ENSP00000509582.1:n.*4119C>T
ENST00000687161.1:n.938C>T
ENST00000687382.1:c.4223C>T ENSP00000510724.1:p.Pro1408Leu
ENST00000687701.1:n.852C>T
ENST00000688079.1:n.2218C>T
ENST00000688663.1:c.*1144C>T ENSP00000509348.1:n.*1144C>T
ENST00000688881.1:n.877C>T
ENST00000688993.1:n.424C>T
ENST00000689768.1:n.2833C>T
ENST00000690145.1:c.4223C>T ENSP00000508818.1:p.Pro1408Leu
ENST00000690242.1:c.4223C>T ENSP00000510090.1:p.Pro1408Leu
ENST00000690250.1:n.1892C>T
ENST00000690690.1:c.676C>T
ENST00000690828.1:n.4479C>T
ENST00000691113.1:c.2702C>T ENSP00000509755.1:n.2702C>T
ENST00000691426.1:n.3352C>T
ENST00000691468.1:c.4172C>T ENSP00000509011.1:p.Pro1391Leu
ENST00000691909.1:n.943C>T
ENST00000692304.1:c.4223C>T ENSP00000508427.1:p.Pro1408Leu
ENST00000692893.1:n.1532C>T
ENST00000692964.1:n.887C>T
ENST00000693050.1:n.730C>T
ENST00000693324.1:c.4187C>T ENSP00000508643.1:p.Pro1396Leu
ENST00000693391.1:c.2168C>T ENSP00000509563.1:p.Pro723Leu
ENST00000374080.8:c.4223C>T MANE Select ENSP00000363193.3:p.Pro1408Leu
ENST00000333646.10:c.3764C>T ENSP00000333125.7:p.Pro1255Leu
ENST00000374080.7:c.4223C>T ENSP00000363193.3:p.Pro1408Leu
ENST00000374102.5:c.4223C>T ENSP00000363215.1:p.Pro1408Leu
NM_005120.2:c.4223C>T NP_005111.2:p.Pro1408Leu
XM_005262317.1:c.4223C>T XP_005262374.1:p.Pro1408Leu
XM_005262319.1:c.4223C>T XP_005262376.1:p.Pro1408Leu
NM_005120.3:c.4223C>T MANE Select NP_005111.2:p.Pro1408Leu