Canonical Allele Identifier: CA5748124

Gene: MGMT

Linked Data

• dbSNP Id: rs776229993
• ExAC: 10:131565068 C / T
• gnomAD v2: 10-131565068-C-T
• gnomAD v3: 10-129766804-C-T
• gnomAD v4: 10-129766804-C-T
• COSMIC: COSM2022709 ; COSM2022710
• MyVariant Identifiers: chr10:g.131565068C>T (hg19) ; chr10:g.129766804C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129766804C>T , CM000672.2:g.129766804C>T	GRCh38
NC_000010.10:g.131565068C>T , CM000672.1:g.131565068C>T	GRCh37
NC_000010.9:g.131455058C>T	NCBI36
NG_052673.1:g.304621C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000306010.8:c.524C>T	ENSP00000302111.7:p.Pro175Leu
ENST00000651593.1:c.431C>T MANE Select	ENSP00000498729.1:p.Pro144Leu
ENST00000306010.7:c.524C>T	ENSP00000302111.7:p.Pro175Leu
NM_002412.3:c.524C>T	NP_002403.2:p.Pro175Leu
NM_002412.4:c.524C>T	NP_002403.2:p.Pro175Leu
XM_005252682.2:c.431C>T	XP_005252739.1:p.Pro144Leu
XM_006717863.2:c.254C>T	XP_006717926.1:p.Pro85Leu
XM_011539817.1:c.440C>T	XP_011538119.1:p.Pro147Leu
NM_002412.5:c.431C>T MANE Select	NP_002403.3:p.Pro144Leu
XM_017016275.1:c.254C>T	XP_016871764.1:p.Pro85Leu