Canonical Allele Identifier: CA1944867520
Community Standard Title: NM_002412.5(MGMT):c.250C= (p.Leu84=)
Gene: MGMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.129708019C= , CM000672.2:g.129708019C= GRCh38
NC_000010.10:g.131506283C= , CM000672.1:g.131506283C= GRCh37
NC_000010.9:g.131396273C= NCBI36
NG_052673.1:g.245836C=

Transcript Alleles

HGVS Amino-acid Change
NM_002412.5:c.250C= MANE Select NP_002403.3:p.Leu84=
ENST00000651593.1:c.250C= MANE Select ENSP00000498729.1:p.Leu84=
NM_002412.3:c.343C= NP_002403.2:p.Leu115=
NM_002412.4:c.343C= NP_002403.2:p.Leu115=
ENST00000306010.7:c.343C= ENSP00000302111.7:p.Leu115=
ENST00000306010.8:c.343C= ENSP00000302111.7:p.Leu115=
ENST00000462672.1:n.411C=
XM_005252682.2:c.250C= XP_005252739.1:p.Leu84=
XM_006717863.2:c.73C= XP_006717926.1:p.Leu25=
XM_011539817.1:c.259C= XP_011538119.1:p.Leu87=
XM_017016275.1:c.73C= XP_016871764.1:p.Leu25=