Canonical Allele Identifier: CA5748172

Gene: MGMT

Linked Data

• dbSNP Id: rs762983201
• ExAC: 10:131565233 C / T
• gnomAD v2: 10-131565233-C-T
• gnomAD v3: 10-129766969-C-T
• gnomAD v4: 10-129766969-C-T
• MyVariant Identifiers: chr10:g.131565233C>T (hg19) ; chr10:g.129766969C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129766969C>T , CM000672.2:g.129766969C>T	GRCh38
NC_000010.10:g.131565233C>T , CM000672.1:g.131565233C>T	GRCh37
NC_000010.9:g.131455223C>T	NCBI36
NG_052673.1:g.304786C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306010.8:c.689C>T	ENSP00000302111.7:p.Ser230Leu
ENST00000651593.1:c.596C>T MANE Select	ENSP00000498729.1:p.Ser199Leu
ENST00000306010.7:c.689C>T	ENSP00000302111.7:p.Ser230Leu
NM_002412.3:c.689C>T	NP_002403.2:p.Ser230Leu
NM_002412.4:c.689C>T	NP_002403.2:p.Ser230Leu
XM_005252682.2:c.596C>T	XP_005252739.1:p.Ser199Leu
XM_006717863.2:c.419C>T	XP_006717926.1:p.Ser140Leu
XM_011539817.1:c.605C>T	XP_011538119.1:p.Ser202Leu
NM_002412.5:c.596C>T MANE Select	NP_002403.3:p.Ser199Leu
XM_017016275.1:c.419C>T	XP_016871764.1:p.Ser140Leu